Variant report

Variant	rs6951946
Chromosome Location	chr7:66047516-66047517
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66044695..66047717-chr7:66050273..66053007,3	K562	blood:
2	chr7:65930280..65931785-chr7:66046752..66048531,2	K562	blood:
3	chr7:66046074..66047727-chr7:66051992..66054807,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10107	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10265311	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10271548	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10274883	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10278014	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950043	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10950046	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10950050	0.86[EUR][1000 genomes]
rs11761542	0.89[EUR][1000 genomes]
rs11763189	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11765791	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11772819	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11772884	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11773628	0.86[EUR][1000 genomes]
rs12333370	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12668005	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12673450	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12698522	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12698526	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13226170	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13226966	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13232191	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13240501	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13242290	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13308803	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13536	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1623000	0.82[ASN][1000 genomes]
rs17747530	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1860469	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1860472	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1968126	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2013908	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2024192	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109295	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2109297	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2420608	0.83[EUR][1000 genomes]
rs2420610	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2420611	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2420821	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2659890	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2659891	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659892	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659893	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2659896	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659898	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2659901	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2659907	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2659908	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2707824	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2707837	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2707847	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs28431318	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28480509	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28617601	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28714531	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28731376	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2901209	0.86[EUR][1000 genomes]
rs35378740	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3846973	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3857685	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3926380	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4506088	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4717315	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4718377	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718383	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57739047	0.83[EUR][1000 genomes]
rs58347342	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61348003	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6460301	0.80[EUR][1000 genomes]
rs6460302	0.84[EUR][1000 genomes]
rs6460303	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6460304	0.83[EUR][1000 genomes]
rs66981195	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6951302	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6955837	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958200	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6971059	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973249	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6975044	0.85[EUR][1000 genomes]
rs6978028	0.81[ASN][1000 genomes]
rs6978178	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6980451	0.83[EUR][1000 genomes]
rs721717	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7384021	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7385102	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7782587	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7793723	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7800620	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7805152	0.88[EUR][1000 genomes]
rs7808013	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs801194	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs801195	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs801202	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801203	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801204	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs801206	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801208	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs801209	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs801215	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs881285	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9791712	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9791713	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised 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
8	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv970868	chr7:66035219-66056610	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs6951946	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs6951946	GS1-124K5.4	cis	Artery Aorta	GTEx
rs6951946	GTF2IRD1P1	cis	Thyroid	GTEx
rs6951946	RP4-756H11.3	cis	Artery Tibial	GTEx
rs6951946	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs6951946	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs6951946	RP4-756H11.3	cis	lung	GTEx
rs6951946	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs6951946	LINC00174	cis	Thyroid	GTEx
rs6951946	RNU6-96P	cis	Thyroid	GTEx
rs6951946	RP4-756H11.3	cis	Thyroid	GTEx
rs6951946	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs6951946	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs6951946	GS1-124K5.11	cis	Thyroid	GTEx
rs6951946	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs6951946	GS1-124K5.2	cis	Whole Blood	GTEx
rs6951946	GS1-124K5.4	cis	Skin Sun Exposed Lower leg	GTEx
rs6951946	GS1-124K5.4	cis	Stomach	GTEx
rs6951946	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs6951946	RP4-756H11.3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:66021800-66056400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:66023200-66048400	Weak transcription	Colon Smooth Muscle	Colon
5	chr7:66023200-66049800	Weak transcription	Stomach Mucosa	stomach
6	chr7:66023200-66055400	Weak transcription	Fetal Brain Male	brain
7	chr7:66024200-66051200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:66024200-66055400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:66024200-66055600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:66024400-66051600	Weak transcription	Spleen	Spleen
11	chr7:66037600-66056400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:66037800-66051200	Weak transcription	Small Intestine	intestine
13	chr7:66037800-66054800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:66038000-66052400	Weak transcription	Psoas Muscle	Psoas
15	chr7:66038000-66056200	Weak transcription	Colonic Mucosa	Colon
16	chr7:66038200-66048400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:66038200-66048600	Weak transcription	Brain Germinal Matrix	brain
18	chr7:66038200-66055400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr7:66038200-66055800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:66038400-66055400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:66038800-66055400	Weak transcription	Fetal Lung	lung
22	chr7:66039200-66054600	Weak transcription	Fetal Brain Female	brain
23	chr7:66039400-66051200	Weak transcription	Ovary	ovary
24	chr7:66039400-66054200	Weak transcription	Right Ventricle	heart
25	chr7:66039400-66054200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:66039400-66055400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr7:66039400-66055400	Weak transcription	Fetal Kidney	kidney
28	chr7:66039400-66055400	Weak transcription	HUVEC	blood vessel
29	chr7:66039400-66055400	Weak transcription	NH-A	brain
30	chr7:66039600-66048600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:66039600-66054800	Weak transcription	Esophagus	oesophagus
32	chr7:66039800-66055400	Weak transcription	HSMMtube	muscle
33	chr7:66040000-66048400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:66040000-66051600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:66040200-66048400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:66040200-66056200	Weak transcription	Aorta	Aorta
37	chr7:66040400-66051600	Weak transcription	Lung	lung
38	chr7:66041000-66048200	Weak transcription	Fetal Thymus	thymus
39	chr7:66041400-66051800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr7:66041800-66048200	Weak transcription	Thymus	Thymus
41	chr7:66042000-66048000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:66042000-66048200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr7:66042000-66054600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:66042000-66054600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr7:66042000-66055800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr7:66042200-66053800	Weak transcription	Hela-S3	cervix
47	chr7:66042200-66055200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:66042400-66047800	Weak transcription	Primary T cells from cord blood	blood
49	chr7:66042600-66047800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:66042600-66050200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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