Variant report

Variant	rs10217168
Chromosome Location	chr9:71794956-71794957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71651891..71654666-chr9:71794283..71796361,2	MCF-7	breast:
2	chr9:71793437..71796575-chr9:71800849..71803990,3	MCF-7	breast:
3	chr9:71785836..71791669-chr9:71792328..71797551,11	K562	blood:
4	chr9:71793542..71796888-chr9:71798932..71802737,4	MCF-7	breast:
5	chr9:71794571..71798394-chr9:71798897..71802534,4	K562	blood:
6	chr9:71734142..71739001-chr9:71788032..71795507,11	MCF-7	breast:
7	chr9:71781811..71784022-chr9:71792209..71795522,3	MCF-7	breast:
8	chr9:71793727..71795446-chr9:71807376..71809123,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000119139	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10114342	0.87[EUR][1000 genomes]
rs10114369	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10114632	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10115134	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10115283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10122932	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs10124710	0.90[EUR][1000 genomes]
rs10125494	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10217120	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10283782	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10735655	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs10781440	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10781456	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10869956	0.87[ASN][1000 genomes]
rs10869961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10869975	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10869976	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10869992	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs10869993	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs10869994	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs10869997	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs11145460	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11145463	0.84[EUR][1000 genomes]
rs11145484	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11145502	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11145748	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12056979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13283073	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13289984	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13301644	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13302681	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1339546	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416738	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538584	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17062237	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs1934263	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2275428	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2309422	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2309424	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2309425	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs2309426	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs2486451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2486452	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[ASN][1000 genomes]
rs2498439	0.96[ASN][1000 genomes]
rs28711298	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2993820	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs3002379	0.82[JPT][hapmap]
rs3002382	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs34872796	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34883177	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4076287	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4375066	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4406474	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4421408	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4576478	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs4592105	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4744829	0.90[EUR][1000 genomes]
rs4745622	0.83[EUR][1000 genomes]
rs4745650	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4745656	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4745671	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4745691	0.95[ASN][1000 genomes]
rs4745692	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4745701	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4745703	0.86[ASN][1000 genomes]
rs59620993	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6560584	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs6560585	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs6560589	0.90[EUR][1000 genomes]
rs7024540	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7026653	0.86[EUR][1000 genomes]
rs7029627	0.86[EUR][1000 genomes]
rs7030146	0.85[YRI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7034179	0.87[EUR][1000 genomes]
rs7034303	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs7038833	0.88[EUR][1000 genomes]
rs7043149	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.82[YRI][hapmap];0.98[ASN][1000 genomes]
rs7048094	0.87[EUR][1000 genomes]
rs7048095	0.87[EUR][1000 genomes]
rs7048492	0.87[EUR][1000 genomes]
rs7048937	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs7467352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7849519	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7850547	0.87[EUR][1000 genomes]
rs7850573	0.96[CEU][hapmap];0.94[CHB][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs7850766	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs7855817	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7857404	0.89[ASN][1000 genomes]
rs7860124	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7862404	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7865373	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs867346	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs884428	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs884429	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs9314865	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9410789	0.95[ASN][1000 genomes]
rs953812	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1053402	chr9:71399722-71819949	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv540146	chr9:71399722-71819949	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv1043689	chr9:71399922-71800338	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv540147	chr9:71399922-71800338	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1047540	chr9:71401918-71803639	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv466397	chr9:71574757-71843023	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv614550	chr9:71574757-71843023	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv1050692	chr9:71578494-71843023	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
16	nsv893416	chr9:71597840-71888601	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
17	nsv1040539	chr9:71600042-71844108	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv540149	chr9:71600042-71844108	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv949664	chr9:71607398-71842391	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv948708	chr9:71632265-71842391	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv1037787	chr9:71635338-71807648	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv540151	chr9:71635338-71807648	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
23	nsv817209	chr9:71675454-71829412	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
25	nsv508550	chr9:71679166-71809433	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv893427	chr9:71762766-71858517	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10217168	TJP2	cis	multi-tissue	Pritchard
rs10217168	TJP2	cis	Whole Blood	GTEx
rs10217168	TJP2	cis	lymphoblastoid	seeQTL
rs10217168	TJP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71788200-71797200	Enhancers	Stomach Mucosa	stomach
2	chr9:71790400-71795200	Enhancers	HUVEC	blood vessel
3	chr9:71790400-71795400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:71790400-71795400	Weak transcription	Pancreas	Pancrea
5	chr9:71790400-71795600	Weak transcription	Spleen	Spleen
6	chr9:71790400-71796800	Weak transcription	Esophagus	oesophagus
7	chr9:71790400-71832200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:71790400-71835600	Weak transcription	Colonic Mucosa	Colon
9	chr9:71790600-71795200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr9:71790800-71795000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:71790800-71797000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:71790800-71797000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr9:71790800-71800800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:71790800-71802200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:71791000-71795600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr9:71791000-71796800	Weak transcription	Right Atrium	heart
17	chr9:71791200-71795200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:71791200-71796000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr9:71791200-71797200	Enhancers	Osteobl	bone
20	chr9:71791200-71797800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:71791200-71802000	Weak transcription	Aorta	Aorta
22	chr9:71791200-71807600	Weak transcription	Psoas Muscle	Psoas
23	chr9:71791400-71795800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:71791400-71804400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr9:71792200-71801400	Weak transcription	Fetal Kidney	kidney
26	chr9:71792200-71802400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:71792400-71795200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr9:71792400-71795200	Weak transcription	HSMMtube	muscle
29	chr9:71792400-71795200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr9:71792400-71795400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr9:71792400-71795400	Enhancers	Hela-S3	cervix
32	chr9:71792400-71808800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:71792800-71795200	Enhancers	NH-A	brain
34	chr9:71793000-71795400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr9:71793000-71795800	Weak transcription	Lung	lung
36	chr9:71793000-71797200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:71793200-71795200	Enhancers	Muscle Satellite Cultured Cells	--
38	chr9:71793200-71796800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr9:71793200-71797600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:71793400-71795400	Enhancers	NHDF-Ad	bronchial
41	chr9:71793400-71797000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr9:71793400-71797400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:71793600-71795000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr9:71793600-71795400	Weak transcription	Gastric	stomach
45	chr9:71793600-71796800	Weak transcription	Placenta	Placenta
46	chr9:71793600-71796800	Weak transcription	Right Ventricle	heart
47	chr9:71793600-71805600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr9:71793800-71795000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr9:71793800-71795000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:71793800-71795000	Weak transcription	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links