Variant report

Variant	rs6976794
Chromosome Location	chr7:102745800-102745801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:102740059..102742895-chr7:102744093..102746013,2	K562	blood:
2	chr7:102740547..102743350-chr7:102743703..102746108,2	MCF-7	breast:
3	chr7:102741620..102743668-chr7:102745262..102747983,3	MCF-7	breast:
4	chr7:102722671..102724592-chr7:102744274..102746459,2	MCF-7	breast:
5	chr7:102714852..102716470-chr7:102744790..102746337,2	K562	blood:

Variant related genes	Relation type
ENSG00000170632	Chromatin interaction
ENSG00000161040	Chromatin interaction

Extended variants
information (count: 137 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10229137	1.00[EUR][1000 genomes]
rs10230292	1.00[EUR][1000 genomes]
rs10240086	1.00[EUR][1000 genomes]
rs10260344	0.82[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10264869	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10268112	1.00[EUR][1000 genomes]
rs10268849	0.83[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808122	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10808123	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808124	1.00[EUR][1000 genomes]
rs10808125	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10808126	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10808127	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10953379	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs11560367	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11760826	1.00[EUR][1000 genomes]
rs11765948	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11772979	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11773883	1.00[EUR][1000 genomes]
rs11981558	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12155099	1.00[EUR][1000 genomes]
rs12539639	1.00[EUR][1000 genomes]
rs13225565	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13226097	1.00[EUR][1000 genomes]
rs13242079	0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13247932	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1404213	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs1477159	1.00[EUR][1000 genomes]
rs1477161	1.00[EUR][1000 genomes]
rs1477162	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1477163	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1558853	0.90[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861725	1.00[EUR][1000 genomes]
rs1861726	1.00[EUR][1000 genomes]
rs1861728	0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861730	0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1861732	1.00[EUR][1000 genomes]
rs1968198	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968199	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1968202	1.00[EUR][1000 genomes]
rs1974715	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1974716	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2015289	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2041949	0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2098447	1.00[EUR][1000 genomes]
rs2111381	1.00[EUR][1000 genomes]
rs2193418	0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411078	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs2411079	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2411081	1.00[EUR][1000 genomes]
rs2411082	0.81[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2898640	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3181009	0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4294127	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs4295594	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4374923	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs4440560	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4530973	0.82[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4727560	1.00[EUR][1000 genomes]
rs4727561	0.86[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729868	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729869	1.00[EUR][1000 genomes]
rs4729870	0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729871	0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729872	1.00[EUR][1000 genomes]
rs4729874	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4729875	1.00[EUR][1000 genomes]
rs4729876	1.00[EUR][1000 genomes]
rs4729878	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729882	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729883	1.00[EUR][1000 genomes]
rs4729884	0.82[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4729892	1.00[EUR][1000 genomes]
rs56938507	1.00[EUR][1000 genomes]
rs59182081	1.00[EUR][1000 genomes]
rs61187383	1.00[EUR][1000 genomes]
rs61676871	1.00[EUR][1000 genomes]
rs62622397	1.00[EUR][1000 genomes]
rs6465890	0.85[YRI][hapmap]
rs6465891	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465892	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465893	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6465898	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6465902	1.00[EUR][1000 genomes]
rs6465904	0.87[AMR][1000 genomes]
rs6465905	1.00[EUR][1000 genomes]
rs6465907	1.00[EUR][1000 genomes]
rs6465911	1.00[EUR][1000 genomes]
rs6944809	1.00[EUR][1000 genomes]
rs6945578	1.00[EUR][1000 genomes]
rs6946968	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6946989	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6947777	1.00[EUR][1000 genomes]
rs6950177	0.80[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6955436	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6959711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6964822	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6966872	0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6966961	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6973702	1.00[EUR][1000 genomes]
rs6973787	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976034	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976290	1.00[EUR][1000 genomes]
rs6977206	0.83[YRI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979140	1.00[EUR][1000 genomes]
rs6979470	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73408209	1.00[EUR][1000 genomes]
rs73408210	1.00[EUR][1000 genomes]
rs73408223	1.00[EUR][1000 genomes]
rs73408251	1.00[EUR][1000 genomes]
rs73408254	1.00[EUR][1000 genomes]
rs73408255	1.00[EUR][1000 genomes]
rs73408259	1.00[EUR][1000 genomes]
rs73408285	1.00[EUR][1000 genomes]
rs73408286	1.00[EUR][1000 genomes]
rs73410119	1.00[EUR][1000 genomes]
rs73410129	1.00[EUR][1000 genomes]
rs73410143	1.00[EUR][1000 genomes]
rs73412168	1.00[EUR][1000 genomes]
rs73412171	1.00[EUR][1000 genomes]
rs73412175	1.00[EUR][1000 genomes]
rs7349957	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7350051	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7782147	1.00[EUR][1000 genomes]
rs7783856	0.80[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7784337	0.80[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7792240	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7801969	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs7807900	1.00[EUR][1000 genomes]
rs7811224	1.00[EUR][1000 genomes]
rs9640672	1.00[EUR][1000 genomes]
rs9641307	1.00[EUR][1000 genomes]
rs9641308	1.00[EUR][1000 genomes]
rs9649256	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs9691829	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6976794	SVH	cis	multi-tissue	Pritchard

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102716600-102746400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:102716600-102746600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:102716600-102746800	Weak transcription	Right Atrium	heart
4	chr7:102716600-102760200	Weak transcription	Lung	lung
5	chr7:102716600-102762200	Weak transcription	Colonic Mucosa	Colon
6	chr7:102716600-102768200	Weak transcription	Right Ventricle	heart
7	chr7:102716800-102753600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:102716800-102768400	Weak transcription	Stomach Mucosa	stomach
9	chr7:102717000-102746600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:102717000-102746800	Weak transcription	Fetal Heart	heart
11	chr7:102717600-102770200	Weak transcription	Small Intestine	intestine
12	chr7:102717800-102768000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:102719400-102769600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:102723400-102746400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:102723600-102746400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:102724000-102745800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:102724000-102760000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:102724000-102770200	Weak transcription	Psoas Muscle	Psoas
19	chr7:102725200-102770200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr7:102725400-102753600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:102725600-102746400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:102725600-102746400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:102725600-102760200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:102725800-102770000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:102727800-102753400	Weak transcription	Brain Angular Gyrus	brain
26	chr7:102727800-102768000	Weak transcription	Fetal Brain Male	brain
27	chr7:102728000-102760000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr7:102728600-102753400	Weak transcription	NHDF-Ad	bronchial
29	chr7:102729800-102745800	Weak transcription	HepG2	liver
30	chr7:102730200-102746400	Weak transcription	Ovary	ovary
31	chr7:102730200-102760200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr7:102730200-102769600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:102731000-102753400	Weak transcription	Hela-S3	cervix
34	chr7:102732400-102746000	Weak transcription	Brain Germinal Matrix	brain
35	chr7:102732400-102746000	Weak transcription	Fetal Intestine Small	intestine
36	chr7:102732400-102753800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:102732600-102746400	Weak transcription	Fetal Stomach	stomach
38	chr7:102732600-102753400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:102734200-102753200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr7:102734200-102753600	Weak transcription	Esophagus	oesophagus
41	chr7:102734200-102770600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr7:102734400-102746600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr7:102734400-102753400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:102736000-102768000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:102736200-102746600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:102737600-102746800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr7:102737800-102754800	Weak transcription	Fetal Kidney	kidney
48	chr7:102738400-102746400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:102738400-102746600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:102738400-102746600	Weak transcription	Gastric	stomach

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