Variant report

Variant	rs344052
Chromosome Location	chr3:156422307-156422308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156391290..156393892-chr3:156420316..156422645,2	MCF-7	breast:
2	chr3:156417836..156420595-chr3:156422104..156423993,2	MCF-7	breast:
3	chr3:156419995..156422332-chr3:156437118..156439741,2	K562	blood:
4	chr3:156413591..156415384-chr3:156421420..156423521,2	K562	blood:
5	chr3:156421711..156423925-chr3:156426591..156428378,2	MCF-7	breast:
6	chr3:156397309..156399430-chr3:156420727..156423184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163659	Chromatin interaction
ENSG00000243926	Chromatin interaction

Extended variants
information (count: 123 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:122)

rs_ID	r²[population]
rs11710516	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11927500	1.00[CHB][hapmap]
rs13321802	1.00[CHB][hapmap]
rs1355280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1397194	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1397195	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1510269	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1510270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs168245	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16826858	1.00[CHB][hapmap]
rs16826864	1.00[CHB][hapmap]
rs16826899	1.00[CHB][hapmap]
rs168295	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs171077	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs171080	1.00[CHB][hapmap]
rs180746	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs180747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs182935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs182936	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs184677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858229	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs186928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs193198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs193423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2129909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136691	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2136692	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs237245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs237246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2633815	1.00[CHB][hapmap]
rs2665390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[ASN][1000 genomes]
rs343991	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs343992	1.00[CHB][hapmap]
rs343995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs343998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344001	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs344006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs344008	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs344009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs344010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs344011	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs344012	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs344013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs344014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344016	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs344017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344023	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs344032	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs344047	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344048	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344049	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344050	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs344053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344059	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs344062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs344064	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344069	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs344074	1.00[CHB][hapmap]
rs344076	1.00[CHB][hapmap]
rs344078	1.00[CHB][hapmap]
rs344081	1.00[CHB][hapmap]
rs344083	1.00[CHB][hapmap]
rs344086	1.00[CHB][hapmap]
rs344090	1.00[CHB][hapmap]
rs344091	1.00[CHB][hapmap]
rs344092	1.00[CHB][hapmap]
rs345987	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs414683	1.00[CHB][hapmap]
rs419287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs427384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4279048	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4429586	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4679784	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4680297	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4680298	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4680299	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs491423	1.00[CHB][hapmap]
rs5012666	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6441089	0.83[AMR][1000 genomes]
rs6441092	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6441093	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6441094	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6441095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6441099	1.00[CHB][hapmap]
rs6441100	1.00[CHB][hapmap]
rs6786167	1.00[CHB][hapmap]
rs6787535	1.00[CHB][hapmap]
rs6787952	1.00[CHB][hapmap]
rs6792917	1.00[CHB][hapmap]
rs6795327	1.00[CHB][hapmap]
rs6795516	1.00[CHB][hapmap]
rs6799457	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7630909	1.00[CHB][hapmap]
rs7640593	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs871232	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes]
rs871233	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs907063	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs931990	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs978108	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs978109	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9823112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9833951	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9861359	1.00[CHB][hapmap]
rs9877043	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9878709	1.00[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428745	chr3:156405054-156577840	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh 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	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156394000-156436000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:156395600-156438600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:156396400-156424800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:156396600-156441000	Weak transcription	Lung	lung
5	chr3:156407800-156423800	Weak transcription	Spleen	Spleen
6	chr3:156407800-156424000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:156407800-156428200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:156409000-156429800	Weak transcription	Gastric	stomach
9	chr3:156409200-156425400	Weak transcription	Colonic Mucosa	Colon
10	chr3:156409400-156425600	Weak transcription	Fetal Brain Male	brain
11	chr3:156409600-156422400	Weak transcription	Fetal Stomach	stomach
12	chr3:156410000-156427400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:156411000-156424200	Genic enhancers	Muscle Satellite Cultured Cells	--
14	chr3:156411400-156426000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr3:156411600-156426000	Strong transcription	HSMMtube	muscle
16	chr3:156411600-156429000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr3:156411800-156425400	Strong transcription	Hela-S3	cervix
18	chr3:156412400-156429400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:156412600-156429200	Strong transcription	HSMM	muscle
20	chr3:156414400-156423800	Weak transcription	Fetal Lung	lung
21	chr3:156414800-156426600	Weak transcription	Brain Germinal Matrix	brain
22	chr3:156416000-156437000	Weak transcription	Pancreas	Pancrea
23	chr3:156416000-156443000	Weak transcription	Aorta	Aorta
24	chr3:156417000-156430400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr3:156417400-156423600	Weak transcription	Left Ventricle	heart
26	chr3:156418000-156425600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr3:156418200-156424400	Strong transcription	NHDF-Ad	bronchial
28	chr3:156418400-156428600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr3:156418800-156428600	Strong transcription	HUVEC	blood vessel
30	chr3:156419000-156426400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr3:156419400-156424400	Strong transcription	Dnd41	blood
32	chr3:156419800-156433800	Weak transcription	Esophagus	oesophagus
33	chr3:156420200-156423400	Genic enhancers	A549	lung
34	chr3:156420200-156424400	Strong transcription	K562	blood
35	chr3:156420400-156424200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:156420400-156424400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:156420400-156424400	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr3:156420400-156426000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr3:156420600-156423800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr3:156420600-156424200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr3:156420600-156424200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr3:156420600-156424800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr3:156420600-156428600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:156420600-156429800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr3:156420800-156422800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:156420800-156423000	Strong transcription	Stomach Smooth Muscle	stomach
47	chr3:156420800-156423400	Strong transcription	Right Ventricle	heart
48	chr3:156420800-156424600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:156420800-156427400	Strong transcription	Fetal Thymus	thymus
50	chr3:156420800-156428000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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