Variant report
Variant | rs6647583 |
---|---|
Chromosome Location | chrX:74146249-74146250 |
allele | G/T |
Outlinks | Ensembl   UCSC |
- TF binding region (count:0)
- CpG islands (count:61)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
No data |
No. | Chromosome Location | Cell Line | Cell type | Cell Stage |
---|---|---|---|---|
1 | chrX:74146242-74146292 | HEK293 | kidney: | embryo |
2 | chrX:74146242-74146292 | AG04449 | skin: | fetal |
3 | chrX:74146242-74146292 | CMK | blood: | n/a |
4 | chrX:74146242-74146292 | GM12891 | blood: | n/a |
5 | chrX:74146242-74146292 | T-47D | breast: | n/a |
6 | chrX:74146242-74146292 | PFSK-1 | brain: | n/a |
7 | chrX:74146242-74146292 | HL-60 | blood: | n/a |
8 | chrX:74146242-74146292 | Hela-S3 | cervix: | n/a |
9 | chrX:74146242-74146292 | HEEpiC | esophagus: | n/a |
10 | chrX:74146242-74146292 | HCF | heart: | n/a |
11 | chrX:74146242-74146292 | GM19239 | blood: | n/a |
12 | chrX:74146242-74146292 | Jurkat | blood: | n/a |
13 | chrX:74146242-74146292 | PANC-1 | pancreas: | n/a |
14 | chrX:74146242-74146292 | AG09319 | gingival: | n/a |
15 | chrX:74146242-74146292 | HCM | heart: | n/a |
16 | chrX:74146242-74146292 | AoSMC | blood vessel: | n/a |
17 | chrX:74146242-74146292 | AG09309 | skin: | n/a |
18 | chrX:74146242-74146292 | ovcar-3 | ovarian: | n/a |
19 | chrX:74146242-74146292 | ProgFib | skin: | n/a |
20 | chrX:74146242-74146292 | GM12878 | blood: | n/a |
21 | chrX:74146242-74146292 | NHBE | bronchial: | n/a |
22 | chrX:74146242-74146292 | AG10803 | skin: | n/a |
23 | chrX:74146242-74146292 | K562 | blood: | n/a |
24 | chrX:74146242-74146292 | MCF10A-Er-Src | breast: | n/a |
25 | chrX:74146242-74146292 | HCT-116 | colon: | n/a |
26 | chrX:74146242-74146292 | AG04450 | lung: | fetal |
27 | chrX:74146242-74146292 | HUVEC | blood vessel: | n/a |
28 | chrX:74146242-74146292 | HCPEpiC | choroid plexus: | n/a |
29 | chrX:74146242-74146292 | H1-hESC | embryonic stem cell: | embryo |
30 | chrX:74146242-74146292 | SK-N-MC | brain: | n/a |
31 | chrX:74146242-74146292 | Caco-2 | colon: | n/a |
32 | chrX:74146242-74146292 | ECC-1 | luminal epithelium: | n/a |
33 | chrX:74146242-74146292 | HRCEpiC | kidney: | n/a |
34 | chrX:74146242-74146292 | PrEC | prostate: | n/a |
35 | chrX:74146242-74146292 | HRE | kidney: | n/a |
36 | chrX:74146242-74146292 | MCF-7 | breast: | n/a |
37 | chrX:74146242-74146292 | NH-A | brain: | n/a |
38 | chrX:74146242-74146292 | SAEC | small airway: | n/a |
39 | chrX:74146242-74146292 | SK-N-SH | brain: | n/a |
40 | chrX:74146242-74146292 | HAEpiC | amniotic membrane: | n/a |
41 | chrX:74146242-74146292 | Hepatocyte | liver: | n/a |
42 | chrX:74146242-74146292 | SKMC | muscle: | n/a |
43 | chrX:74146242-74146292 | HRPEpiC | eye: | n/a |
44 | chrX:74146242-74146292 | NB4 | blood: | n/a |
45 | chrX:74146242-74146292 | SK-N-SH_RA | brain: | n/a |
46 | chrX:74146242-74146292 | IMR90 | lung: | fetal |
47 | chrX:74146242-74146292 | RPTEC | kidney: | n/a |
48 | chrX:74146242-74146292 | LNCaP | prostate: | n/a |
49 | chrX:74146242-74146292 | GM12892 | blood: | n/a |
50 | chrX:74146242-74146292 | U87 | brain: | n/a |
No data |
No data |
No data |
No data |
Variant related genes | Relation type |
---|---|
KIAA2022 | CpG island |
rs_ID | r2[population] |
---|---|
rs12689586 | 0.84[CHB][hapmap] |
rs1361828 | 1.00[CEU][hapmap];1.00[CHB][hapmap] |
rs1573169 | 1.00[CEU][hapmap];1.00[CHB][hapmap] |
rs16988567 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap] |
rs2153984 | 1.00[CHB][hapmap];0.81[YRI][hapmap] |
rs2226174 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap] |
rs4892530 | 1.00[CEU][hapmap];1.00[CHB][hapmap] |
rs4892539 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[TSI][hapmap] |
rs5937900 | 0.87[MEX][hapmap] |
rs5981700 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap] |
rs6607490 | 1.00[CEU][hapmap];1.00[CHB][hapmap] |
rs6607496 | 1.00[CEU][hapmap];1.00[CHB][hapmap] |
rs6647073 | 0.87[MEX][hapmap] |
rs6647074 | 0.87[MEX][hapmap] |
rs6647077 | 1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap] |
rs6647531 | 1.00[CHB][hapmap];0.89[CHD][hapmap];0.93[MEX][hapmap] |
rs6647537 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap] |
rs6647563 | 1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap] |
rs6647565 | 1.00[CEU][hapmap];1.00[CHB][hapmap] |
rs6647566 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap] |
rs6647567 | 1.00[CEU][hapmap];1.00[CHB][hapmap] |
rs6647568 | 1.00[CEU][hapmap];1.00[CHB][hapmap] |
rs6647569 | 1.00[CEU][hapmap];1.00[CHB][hapmap] |
rs6647571 | 1.00[CEU][hapmap] |
rs6647574 | 1.00[CEU][hapmap];1.00[CHB][hapmap] |
rs6647577 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap] |
rs6647579 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap] |
rs6647582 | 1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap] |

No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
---|---|---|---|---|---|---|---|
1 | nsv916758 | chrX:73546406-74420929 | Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' | TF binding regionCpG islandChromatin interactive regionlncRNAmiRNA target site | 31 gene(s) | inside rSNPs | diseases |
No data |
No. | Chromosome Location | Chromatin state | Cell line | Tissue |
---|---|---|---|---|
1 | chrX:74145600-74149400 | Weak transcription | GM12878-XiMat | blood |
2 | chrX:74145800-74146600 | Bivalent/Poised TSS | iPS-15b Cell Line | embryonic stem cell |