Variant report

Variant	rs7704710
Chromosome Location	chr5:35875954-35875955
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs10041865	1.00[EUR][1000 genomes]
rs10058723	1.00[EUR][1000 genomes]
rs10058960	1.00[EUR][1000 genomes]
rs10077553	1.00[EUR][1000 genomes]
rs10079269	1.00[EUR][1000 genomes]
rs10079517	1.00[EUR][1000 genomes]
rs10491432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10491433	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11567717	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11567730	1.00[EUR][1000 genomes]
rs11567764	0.89[LWK][hapmap];0.94[MKK][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11951270	1.00[EUR][1000 genomes]
rs1374015	1.00[EUR][1000 genomes]
rs1494570	1.00[EUR][1000 genomes]
rs16902514	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16902535	1.00[EUR][1000 genomes]
rs16902557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16902562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16902592	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16902593	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16902594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16902638	1.00[EUR][1000 genomes]
rs16902639	1.00[EUR][1000 genomes]
rs16902643	1.00[ASW][hapmap];1.00[EUR][1000 genomes]
rs16902650	1.00[EUR][1000 genomes]
rs16902651	1.00[EUR][1000 genomes]
rs16902667	1.00[EUR][1000 genomes]
rs16902670	1.00[EUR][1000 genomes]
rs16902682	1.00[EUR][1000 genomes]
rs28756345	1.00[EUR][1000 genomes]
rs55662701	1.00[EUR][1000 genomes]
rs56053392	1.00[EUR][1000 genomes]
rs56169453	1.00[EUR][1000 genomes]
rs56276485	1.00[EUR][1000 genomes]
rs56297110	1.00[EUR][1000 genomes]
rs56665523	1.00[EUR][1000 genomes]
rs56773364	1.00[EUR][1000 genomes]
rs57273729	1.00[EUR][1000 genomes]
rs57435143	1.00[EUR][1000 genomes]
rs57498894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57579833	1.00[EUR][1000 genomes]
rs58168401	1.00[EUR][1000 genomes]
rs58457055	1.00[EUR][1000 genomes]
rs58671818	1.00[EUR][1000 genomes]
rs58872016	1.00[EUR][1000 genomes]
rs59555387	1.00[EUR][1000 genomes]
rs59714026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6451222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6861184	1.00[EUR][1000 genomes]
rs6864736	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6875303	1.00[EUR][1000 genomes]
rs6876261	1.00[EUR][1000 genomes]
rs6881747	1.00[EUR][1000 genomes]
rs6881919	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894309	1.00[EUR][1000 genomes]
rs73076116	1.00[EUR][1000 genomes]
rs73076118	1.00[EUR][1000 genomes]
rs73076126	1.00[EUR][1000 genomes]
rs73076137	1.00[EUR][1000 genomes]
rs73076149	1.00[EUR][1000 genomes]
rs73076151	1.00[EUR][1000 genomes]
rs73076155	1.00[EUR][1000 genomes]
rs73076161	1.00[EUR][1000 genomes]
rs73076166	1.00[EUR][1000 genomes]
rs73076168	1.00[EUR][1000 genomes]
rs73076171	1.00[EUR][1000 genomes]
rs73076172	1.00[EUR][1000 genomes]
rs73076173	1.00[EUR][1000 genomes]
rs73076178	1.00[EUR][1000 genomes]
rs73076180	1.00[EUR][1000 genomes]
rs73076197	1.00[EUR][1000 genomes]
rs73076199	1.00[EUR][1000 genomes]
rs73078005	1.00[EUR][1000 genomes]
rs73078010	1.00[EUR][1000 genomes]
rs73078011	1.00[EUR][1000 genomes]
rs73078024	1.00[EUR][1000 genomes]
rs73082277	1.00[EUR][1000 genomes]
rs73084351	1.00[EUR][1000 genomes]
rs73084388	1.00[EUR][1000 genomes]
rs73084398	1.00[EUR][1000 genomes]
rs73086208	1.00[EUR][1000 genomes]
rs73086212	1.00[EUR][1000 genomes]
rs73086213	1.00[EUR][1000 genomes]
rs73086237	1.00[EUR][1000 genomes]
rs73086243	1.00[EUR][1000 genomes]
rs73086251	1.00[EUR][1000 genomes]
rs73086261	1.00[EUR][1000 genomes]
rs73086281	1.00[EUR][1000 genomes]
rs73086282	1.00[EUR][1000 genomes]
rs73086302	1.00[EUR][1000 genomes]
rs73088209	1.00[EUR][1000 genomes]
rs73088244	1.00[EUR][1000 genomes]
rs73090209	1.00[EUR][1000 genomes]
rs73090222	1.00[EUR][1000 genomes]
rs73090239	1.00[EUR][1000 genomes]
rs73090241	1.00[EUR][1000 genomes]
rs73090248	1.00[EUR][1000 genomes]
rs73090257	1.00[EUR][1000 genomes]
rs73090276	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090284	1.00[EUR][1000 genomes]
rs73090289	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090291	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090295	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73092033	1.00[EUR][1000 genomes]
rs73092034	1.00[EUR][1000 genomes]
rs73092092	1.00[EUR][1000 genomes]
rs73092100	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094009	1.00[EUR][1000 genomes]
rs73094019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73750816	1.00[EUR][1000 genomes]
rs73750817	1.00[EUR][1000 genomes]
rs7701519	1.00[EUR][1000 genomes]
rs7708334	1.00[EUR][1000 genomes]
rs7710405	1.00[EUR][1000 genomes]
rs7714297	1.00[EUR][1000 genomes]
rs7720394	1.00[EUR][1000 genomes]
rs7724777	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9292610	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022761	chr5:35775802-35902546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv471011	chr5:35861068-36003217	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830261	chr5:35863084-36018048	Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7704710	RNF212	trans	lymphoblastoid	seeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35860000-35876600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:35860400-35883800	Weak transcription	Small Intestine	intestine
3	chr5:35862600-35876200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:35863800-35876200	Weak transcription	NHDF-Ad	bronchial
5	chr5:35864600-35876600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:35866200-35878400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:35866600-35878800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr5:35866600-35882000	Genic enhancers	Dnd41	blood
9	chr5:35867600-35878000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:35867800-35876400	Strong transcription	NHLF	lung
11	chr5:35867800-35879800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr5:35868200-35876000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:35869200-35876600	Weak transcription	HMEC	breast
14	chr5:35869400-35876600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:35870000-35876200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:35870400-35876200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:35870600-35878200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:35873200-35876400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
19	chr5:35873200-35880200	Genic enhancers	Primary T cells from cord blood	blood
20	chr5:35873200-35880200	Genic enhancers	Thymus	Thymus
21	chr5:35873400-35880000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr5:35873600-35876400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr5:35873600-35878000	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr5:35874400-35876600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:35874400-35878400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:35875200-35876400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:35875400-35876600	Strong transcription	Osteobl	bone
28	chr5:35875400-35878000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:35875400-35878200	Strong transcription	HSMM	muscle
30	chr5:35875400-35883200	Genic enhancers	Fetal Thymus	thymus
31	chr5:35875600-35877800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:35875800-35876400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:35875800-35876400	ZNF genes & repeats	Lung	lung
34	chr5:35875800-35876600	Enhancers	GM12878-XiMat	blood
35	chr5:35875800-35876800	Enhancers	Hela-S3	cervix
36	chr5:35875800-35877200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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