Variant report
Variant | rs7537483 |
---|---|
Chromosome Location | chr1:146709877-146709878 |
allele | C/G |
Outlinks | Ensembl   UCSC |
- TF binding region (count:72)
- CpG islands (count:0)
- Chromatin interactive region (count:11)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No. | Transcrition factor | Chromosome Location | Cell Line | Cell type | Cell Stage | Matched TF binding sites |
---|---|---|---|---|---|---|
1 | FOXA1 | chr1:146709739-146710232 | HepG2 | liver: | n/a | chr1:146709923-146709938 |
2 | JUND | chr1:146709808-146710166 | A549 | lung: | n/a | chr1:146709966-146709974 chr1:146709964-146709975 |
3 | CEBPB | chr1:146709740-146710453 | HepG2 | liver: | n/a | n/a |
4 | SP1 | chr1:146709670-146710268 | A549 | lung: | n/a | n/a |
5 | FOS | chr1:146709799-146710164 | MCF10A-Er-Src | breast: | n/a | chr1:146709966-146709974 |
6 | SMC3 | chr1:146709723-146710401 | HepG2 | liver: | n/a | n/a |
7 | HNF4A | chr1:146709638-146710171 | HepG2 | liver: | n/a | chr1:146710031-146710039 chr1:146709891-146709906 chr1:146709884-146709897 chr1:146709890-146709905 chr1:146709891-146709904 chr1:146709891-146709905 chr1:146709884-146709897 |
8 | MYC | chr1:146709877-146710162 | MCF10A-Er-Src | breast: | n/a | n/a |
9 | JUND | chr1:146709736-146710226 | HepG2 | liver: | n/a | chr1:146709966-146709974 chr1:146709964-146709975 |
10 | BHLHE40 | chr1:146709818-146710231 | HepG2 | liver: | n/a | n/a |
11 | STAT3 | chr1:146709871-146710126 | MCF10A-Er-Src | breast: | n/a | n/a |
12 | CEBPB | chr1:146709757-146710261 | MCF-7 | breast: | n/a | n/a |
13 | EP300 | chr1:146709611-146710310 | HepG2 | liver: | n/a | chr1:146709928-146709938 |
14 | MBD4 | chr1:146709694-146710337 | HepG2 | liver: | n/a | n/a |
15 | SIN3AK20 | chr1:146708703-146710252 | MCF-7 | breast: | n/a | n/a |
16 | FOXA1 | chr1:146709785-146710124 | T-47D | breast: | n/a | chr1:146709923-146709938 |
17 | EP300 | chr1:146709761-146710187 | HepG2 | liver: | n/a | chr1:146709928-146709938 |
18 | FOXA2 | chr1:146709740-146710204 | A549 | lung: | n/a | n/a |
19 | TEAD4 | chr1:146709624-146711177 | HepG2 | liver: | n/a | n/a |
20 | GATA3 | chr1:146709776-146710208 | T-47D | breast: | n/a | n/a |
21 | HEY1 | chr1:146709712-146710331 | HepG2 | liver: | n/a | n/a |
22 | TCF12 | chr1:146709577-146710347 | A549 | lung: | n/a | n/a |
23 | CEBPB | chr1:146709820-146710211 | A549 | lung: | n/a | n/a |
24 | HDAC2 | chr1:146709738-146710162 | HepG2 | liver: | n/a | chr1:146709928-146709937 |
25 | NR2F2 | chr1:146708929-146710255 | MCF-7 | breast: | n/a | n/a |
26 | NFIC | chr1:146709175-146712072 | HepG2 | liver: | n/a | n/a |
27 | FOSL2 | chr1:146709726-146710171 | HepG2 | liver: | n/a | chr1:146709966-146709974 chr1:146709965-146709976 |
28 | GATA3 | chr1:146709000-146710334 | MCF-7 | breast: | n/a | n/a |
29 | HDAC2 | chr1:146709620-146710214 | HepG2 | liver: | n/a | chr1:146709928-146709937 chr1:146709671-146709685 |
30 | SP1 | chr1:146709597-146710290 | HepG2 | liver: | n/a | n/a |
31 | MYC | chr1:146709869-146710202 | MCF10A-Er-Src | breast: | n/a | n/a |
32 | TCF12 | chr1:146709740-146710136 | HepG2 | liver: | n/a | n/a |
33 | ELF1 | chr1:146709697-146710121 | HepG2 | liver: | n/a | n/a |
34 | FOXA2 | chr1:146709314-146711469 | HepG2 | liver: | n/a | n/a |
35 | POLR2A | chr1:146709728-146710286 | HepG2 | liver: | n/a | n/a |
36 | MAFK | chr1:146709753-146710337 | HepG2 | liver: | n/a | n/a |
37 | JUN | chr1:146709792-146710313 | HepG2 | liver: | n/a | chr1:146709966-146709974 |
38 | SP1 | chr1:146709653-146710220 | A549 | lung: | n/a | n/a |
39 | FOXA1 | chr1:146709592-146710293 | HepG2 | liver: | n/a | chr1:146709923-146709938 |
40 | ELF1 | chr1:146709763-146710142 | HepG2 | liver: | n/a | n/a |
41 | JUND | chr1:146709803-146710069 | HepG2 | liver: | n/a | chr1:146709966-146709974 chr1:146709964-146709975 |
42 | HNF4A | chr1:146709666-146710122 | HepG2 | liver: | n/a | chr1:146710031-146710039 chr1:146709891-146709906 chr1:146709884-146709897 chr1:146709890-146709905 chr1:146709891-146709904 chr1:146709891-146709905 chr1:146709884-146709897 |
43 | FOSL2 | chr1:146709600-146710298 | A549 | lung: | n/a | chr1:146709966-146709974 chr1:146709965-146709976 |
44 | HEY1 | chr1:146709589-146710340 | HepG2 | liver: | n/a | n/a |
45 | JUND | chr1:146709720-146710160 | HepG2 | liver: | n/a | chr1:146709966-146709974 chr1:146709964-146709975 |
46 | POLR2A | chr1:146709845-146710212 | HepG2 | liver: | n/a | n/a |
47 | HNF4G | chr1:146709693-146710167 | HepG2 | liver: | n/a | chr1:146710031-146710039 chr1:146709891-146709906 chr1:146709884-146709897 chr1:146709882-146709897 chr1:146709891-146709904 chr1:146709891-146709905 chr1:146709884-146709897 |
48 | MBD4 | chr1:146709682-146710339 | HepG2 | liver: | n/a | n/a |
49 | TCF7L2 | chr1:146709713-146710378 | HepG2 | liver: | n/a | n/a |
50 | RXRA | chr1:146709724-146710180 | HepG2 | liver: | n/a | chr1:146709890-146709906 chr1:146709888-146709908 |
No data |
(count:11 , 50 per page) page:
1
No. | Distal block | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chr1:146669479..146672261-chr1:146708761..146711496,2 | MCF-7 | breast: | |
2 | chr1:146694787..146699847-chr1:146706639..146711306,10 | MCF-7 | breast: | |
3 | chr1:146555582..146557565-chr1:146708158..146710932,2 | K562 | blood: | |
4 | chr1:146655417..146657145-chr1:146709570..146711892,2 | MCF-7 | breast: | |
5 | chr1:146636327..146637904-chr1:146709473..146711189,2 | MCF-7 | breast: | |
6 | chr1:146642343..146646438-chr1:146707270..146711599,11 | MCF-7 | breast: | |
7 | chr1:146656864..146658440-chr1:146707993..146710548,2 | MCF-7 | breast: | |
8 | chr1:146554799..146556804-chr1:146709237..146711189,2 | K562 | blood: | |
9 | chr1:146581119..146583919-chr1:146708299..146710988,2 | MCF-7 | breast: | |
10 | chr1:146704247..146709929-chr1:146710011..146715268,7 | K562 | blood: | |
11 | chr1:146638044..146647556-chr1:146707628..146717159,48 | MCF-7 | breast: |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
CHD1L | TF binding region |
ENSG00000271721 | Chromatin interaction |
ENSG00000237188 | Chromatin interaction |
ENSG00000131791 | Chromatin interaction |
ENSG00000236806 | Chromatin interaction |
ENSG00000131781 | Chromatin interaction |
ENSG00000230832 | Chromatin interaction |
ENSG00000131778 | Chromatin interaction |
ENSG00000273071 | Chromatin interaction |
rs_ID | r2[population] |
---|---|
rs10494242 | 1.00[YRI][hapmap];0.82[AFR][1000 genomes] |
rs10494243 | 1.00[ASW][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes] |
rs10494244 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[ASN][1000 genomes] |
rs10900325 | 0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes] |
rs11239944 | 0.86[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes] |
rs11239945 | 1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes] |
rs11239946 | 0.90[AFR][1000 genomes];0.89[ASN][1000 genomes] |
rs11239947 | 0.94[ASN][1000 genomes] |
rs11239964 | 0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs11239965 | 0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs11579626 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs11585178 | 0.90[AFR][1000 genomes];0.93[ASN][1000 genomes] |
rs11585180 | 0.91[ASN][1000 genomes] |
rs11586665 | 0.85[AFR][1000 genomes];0.96[ASN][1000 genomes] |
rs11587333 | 1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs11587707 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs11588753 | 0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes] |
rs12402309 | 0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs12403141 | 1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[ASN][1000 genomes] |
rs12404113 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs12405240 | 0.89[CHB][hapmap];1.00[JPT][hapmap] |
rs12568866 | 0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs17355733 | 0.82[AFR][1000 genomes] |
rs17355740 | 0.82[AFR][1000 genomes] |
rs17355768 | 0.82[AFR][1000 genomes] |
rs17355789 | 0.82[AFR][1000 genomes] |
rs17355796 | 0.82[AFR][1000 genomes] |
rs17355817 | 0.82[AFR][1000 genomes] |
rs17355844 | 0.89[AFR][1000 genomes] |
rs17355858 | 0.89[AFR][1000 genomes] |
rs17355899 | 0.89[AFR][1000 genomes] |
rs17355913 | 0.89[AFR][1000 genomes] |
rs17355927 | 0.89[AFR][1000 genomes] |
rs17355962 | 0.89[AFR][1000 genomes] |
rs17356024 | 1.00[ASW][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes] |
rs17356031 | 0.89[AFR][1000 genomes] |
rs17359851 | 1.00[ASW][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes] |
rs17359865 | 0.82[AFR][1000 genomes] |
rs17359879 | 0.82[AFR][1000 genomes] |
rs17360003 | 1.00[YRI][hapmap];0.89[AFR][1000 genomes] |
rs17360031 | 0.89[AFR][1000 genomes] |
rs17360059 | 0.89[AFR][1000 genomes] |
rs17360066 | 0.89[AFR][1000 genomes] |
rs1932979 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes] |
rs2120003 | 1.00[JPT][hapmap];0.90[ASN][1000 genomes] |
rs2165743 | 0.90[ASN][1000 genomes] |
rs2275249 | 0.92[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes] |
rs2297752 | 1.00[CEU][hapmap];0.88[EUR][1000 genomes] |
rs2354432 | 0.87[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes] |
rs28381176 | 0.83[AFR][1000 genomes] |
rs28381180 | 0.89[AFR][1000 genomes] |
rs28381181 | 0.89[AFR][1000 genomes] |
rs28381183 | 0.89[AFR][1000 genomes] |
rs28381188 | 0.89[AFR][1000 genomes] |
rs28381190 | 0.89[AFR][1000 genomes] |
rs28381193 | 0.89[AFR][1000 genomes] |
rs28381194 | 0.83[AFR][1000 genomes] |
rs28381200 | 0.89[AFR][1000 genomes] |
rs28381203 | 0.82[AFR][1000 genomes] |
rs28381205 | 0.89[AFR][1000 genomes] |
rs28381206 | 0.83[AFR][1000 genomes] |
rs28381209 | 0.89[AFR][1000 genomes] |
rs28381230 | 0.82[AFR][1000 genomes] |
rs28706431 | 0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs34838459 | 0.82[AFR][1000 genomes] |
rs3737845 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs3737848 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs3766524 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes] |
rs3820130 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs41295821 | 0.82[AFR][1000 genomes] |
rs41312712 | 0.82[AFR][1000 genomes] |
rs41480846 | 0.89[AFR][1000 genomes] |
rs55653839 | 0.82[AFR][1000 genomes] |
rs55710129 | 0.82[AFR][1000 genomes] |
rs55918563 | 0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs56047816 | 0.89[AFR][1000 genomes] |
rs56079929 | 0.82[AFR][1000 genomes] |
rs56182581 | 0.82[AFR][1000 genomes] |
rs56400874 | 0.89[AFR][1000 genomes] |
rs56410162 | 0.82[AFR][1000 genomes] |
rs57078845 | 0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs57570045 | 0.82[AFR][1000 genomes] |
rs59180647 | 0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs59606861 | 0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs59689207 | 0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs62623392 | 0.82[AFR][1000 genomes] |
rs62623395 | 0.82[AFR][1000 genomes] |
rs6593751 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs66486822 | 0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs6658763 | 1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes] |
rs6659191 | 1.00[ASW][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes] |
rs6665580 | 1.00[ASW][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes] |
rs6665934 | 1.00[YRI][hapmap];0.82[AFR][1000 genomes] |
rs6668865 | 1.00[ASW][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes] |
rs6674519 | 0.89[AFR][1000 genomes] |
rs6674643 | 0.89[AFR][1000 genomes] |
rs6677679 | 0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs6681389 | 0.89[AFR][1000 genomes] |
rs6683243 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs6684454 | 1.00[ASW][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes] |
rs6685775 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs6689243 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes] |
rs6689934 | 0.86[CHB][hapmap];1.00[JPT][hapmap] |
rs6690541 | 0.82[AFR][1000 genomes] |
rs6694347 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs68080346 | 0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs72691008 | 0.97[ASN][1000 genomes] |
rs72692962 | 0.88[AMR][1000 genomes];0.88[EUR][1000 genomes] |
rs72706501 | 0.82[AFR][1000 genomes] |
rs72708503 | 0.82[AFR][1000 genomes] |
rs72708504 | 0.82[AFR][1000 genomes] |
rs72708505 | 0.82[AFR][1000 genomes] |
rs72708508 | 0.82[AFR][1000 genomes] |
rs72708509 | 0.82[AFR][1000 genomes] |
rs72708510 | 0.82[AFR][1000 genomes] |
rs72708511 | 0.82[AFR][1000 genomes] |
rs72708514 | 0.82[AFR][1000 genomes] |
rs72708515 | 0.82[AFR][1000 genomes] |
rs72708517 | 0.82[AFR][1000 genomes] |
rs72708520 | 0.82[AFR][1000 genomes] |
rs72708527 | 0.82[AFR][1000 genomes] |
rs72708529 | 0.82[AFR][1000 genomes] |
rs72708530 | 0.82[AFR][1000 genomes] |
rs72708537 | 0.82[AFR][1000 genomes] |
rs72708538 | 0.82[AFR][1000 genomes] |
rs72708539 | 0.82[AFR][1000 genomes] |
rs72708544 | 0.82[AFR][1000 genomes] |
rs72708545 | 0.82[AFR][1000 genomes] |
rs72708547 | 0.82[AFR][1000 genomes] |
rs72708548 | 0.82[AFR][1000 genomes] |
rs72708553 | 0.82[AFR][1000 genomes] |
rs72708554 | 0.82[AFR][1000 genomes] |
rs72708555 | 0.82[AFR][1000 genomes] |
rs72708556 | 0.82[AFR][1000 genomes] |
rs72708558 | 0.82[AFR][1000 genomes] |
rs72708565 | 0.82[AFR][1000 genomes] |
rs72708569 | 0.82[AFR][1000 genomes] |
rs72708573 | 0.82[AFR][1000 genomes] |
rs72708581 | 0.82[AFR][1000 genomes] |
rs72708582 | 0.82[AFR][1000 genomes] |
rs72708584 | 0.82[AFR][1000 genomes] |
rs72708586 | 0.82[AFR][1000 genomes] |
rs72708595 | 0.89[AFR][1000 genomes] |
rs72708598 | 0.89[AFR][1000 genomes] |
rs72708600 | 0.89[AFR][1000 genomes] |
rs72710311 | 1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7511989 | 0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7514864 | 0.90[ASN][1000 genomes] |
rs7516430 | 1.00[CEU][hapmap];0.82[GIH][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes] |
rs7520476 | 0.82[AFR][1000 genomes] |
rs7525622 | 0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs7528172 | 1.00[ASW][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes] |
rs7531962 | 0.82[EUR][1000 genomes] |
rs7532458 | 1.00[ASW][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes] |
rs7535644 | 0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes] |
rs7541245 | 1.00[ASW][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes] |
rs7545467 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes] |
rs7547138 | 0.82[AFR][1000 genomes] |
rs7556347 | 0.82[AFR][1000 genomes] |
rs885305 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes] |
rs9661159 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv872251 | chr1:146152553-146803630 | Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 95 gene(s) | inside rSNPs | diseases |
2 | nsv872252 | chr1:146471863-147398135 | Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 112 gene(s) | inside rSNPs | diseases |
3 | nsv999546 | chr1:146507577-147356574 | Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
4 | nsv535123 | chr1:146507577-147356574 | Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
5 | nsv492188 | chr1:146507649-147381479 | Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
6 | nsv916754 | chr1:146507711-147417736 | Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 113 gene(s) | inside rSNPs | diseases |
7 | nsv547673 | chr1:146510112-147398135 | Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 111 gene(s) | inside rSNPs | diseases |
8 | nsv547674 | chr1:146522722-147396797 | Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 111 gene(s) | inside rSNPs | diseases |
9 | nsv998341 | chr1:146531446-147384720 | Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
10 | nsv535124 | chr1:146531446-147384720 | Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
11 | nsv1003493 | chr1:146531446-147389944 | Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
12 | nsv998209 | chr1:146543722-147384720 | Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
13 | nsv535126 | chr1:146543722-147384720 | Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 110 gene(s) | inside rSNPs | diseases |
14 | nsv872255 | chr1:146550780-146969712 | Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 93 gene(s) | inside rSNPs | diseases |
15 | nsv872256 | chr1:146556596-147410973 | Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 77 gene(s) | inside rSNPs | diseases |
16 | nsv1012331 | chr1:146603479-147384720 | Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
17 | nsv535131 | chr1:146603479-147384720 | Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 49 gene(s) | inside rSNPs | diseases |
18 | nsv1009943 | chr1:146618929-146893851 | Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
19 | nsv535132 | chr1:146618929-146893851 | Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 28 gene(s) | inside rSNPs | diseases |
20 | nsv872257 | chr1:146643555-146724923 | Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
21 | nsv437047 | chr1:146643555-146841602 | Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 25 gene(s) | inside rSNPs | diseases |
22 | nsv1005809 | chr1:146647822-146886419 | Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
23 | nsv535134 | chr1:146647822-146886419 | Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 23 gene(s) | inside rSNPs | diseases |
24 | nsv1004849 | chr1:146661516-147286826 | Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 44 gene(s) | inside rSNPs | diseases |
25 | nsv535135 | chr1:146661516-147286826 | Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 44 gene(s) | inside rSNPs | diseases |
26 | nsv547676 | chr1:146686228-146996047 | Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer | TF binding regionCpG islandChromatin interactive regionlncRNA | 28 gene(s) | inside rSNPs | diseases |
27 | nsv872259 | chr1:146688941-146724923 | Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS | TF binding regionCpG islandChromatin interactive regionlncRNA | 17 gene(s) | inside rSNPs | diseases |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chr1:146705800-146710600 | ZNF genes & repeats | hESC Derived CD184+ Endoderm Cultured Cells | ES cell derived |
2 | chr1:146705800-146711600 | Enhancers | Stomach Mucosa | stomach |
3 | chr1:146707600-146713000 | Enhancers | Fetal Intestine Large | intestine |
4 | chr1:146708400-146711000 | Weak transcription | iPS DF 6.9 Cell Line | embryonic stem cell |
5 | chr1:146708800-146710200 | Flanking Active TSS | A549 | lung |
6 | chr1:146708800-146712200 | Enhancers | Fetal Intestine Small | intestine |
7 | chr1:146708800-146713600 | Weak transcription | Primary hematopoietic stem cells short term culture | blood |
8 | chr1:146709000-146713600 | Weak transcription | Foreskin Keratinocyte Primary Cells skin02 | Skin |
9 | chr1:146709200-146710600 | Flanking Active TSS | HepG2 | liver |
10 | chr1:146709200-146711800 | Weak transcription | Lung | lung |
11 | chr1:146709200-146712000 | Enhancers | Liver | Liver |
12 | chr1:146709200-146713600 | Weak transcription | HMEC | breast |
13 | chr1:146709200-146713800 | Weak transcription | Foreskin Melanocyte Primary Cells skin01 | Skin |
14 | chr1:146709200-146714200 | Weak transcription | Gastric | stomach |
15 | chr1:146709400-146710000 | Weak transcription | Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells | embryonic stem cell |
16 | chr1:146709400-146710400 | Weak transcription | Fetal Lung | lung |
17 | chr1:146709400-146710600 | Weak transcription | Pancreas | Pancrea |
18 | chr1:146709400-146710800 | Enhancers | Pancreatic Islets | Pancreatic Islet |
19 | chr1:146709400-146711000 | Weak transcription | Foreskin Keratinocyte Primary Cells skin03 | Skin |
20 | chr1:146709400-146711600 | Enhancers | Duodenum Mucosa | Duodenum |
21 | chr1:146709400-146713600 | Weak transcription | Breast variant Human Mammary Epithelial Cells (vHMEC) | Breast |
22 | chr1:146709400-146713800 | Weak transcription | Colonic Mucosa | Colon |
23 | chr1:146709400-146713800 | Weak transcription | Placenta | Placenta |
24 | chr1:146709400-146714000 | Weak transcription | iPS DF 19.11 Cell Line | embryonic stem cell |
25 | chr1:146709400-146714000 | Weak transcription | Esophagus | oesophagus |
26 | chr1:146709400-146714200 | Weak transcription | Sigmoid Colon | Sigmoid Colon |
27 | chr1:146709600-146710000 | Active TSS | Rectal Mucosa Donor 29 | rectum |
28 | chr1:146709600-146710000 | Active TSS | Rectal Mucosa Donor 31 | rectum |
29 | chr1:146709600-146710000 | Weak transcription | Hela-S3 | cervix |