Variant report

Variant	rs7610830
Chromosome Location	chr3:50512074-50512075
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:50511467..50513036-chr3:50538944..50541832,2	K562	blood:

Variant related genes	Relation type
ENSG00000007402	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1034408	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1034409	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1107312	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11130253	1.00[TSI][hapmap]
rs11914549	0.89[AFR][1000 genomes]
rs17051025	1.00[TSI][hapmap]
rs2157328	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2187815	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2236969	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2236972	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2236976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2236977	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2236978	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2236982	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2236990	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2282757	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28428559	1.00[EUR][1000 genomes]
rs28580410	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28593422	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3774753	1.00[CEU][hapmap]
rs3806706	1.00[CEU][hapmap]
rs41305886	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4422301	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55790255	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55876418	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55892059	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56114301	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56249615	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56258146	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56287038	0.90[AFR][1000 genomes]
rs56766970	1.00[EUR][1000 genomes]
rs57405128	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57415469	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58412961	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58415636	0.88[AFR][1000 genomes]
rs59012751	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59790001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60149721	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60273100	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60391761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60697422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61413553	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61493458	1.00[EUR][1000 genomes]
rs6446203	0.87[ASW][hapmap];1.00[CEU][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs6767505	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6770258	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6770669	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832879	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832881	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833363	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833366	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833371	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833372	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73833373	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833386	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73835503	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73835505	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs743754	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[EUR][1000 genomes]
rs743755	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs743859	1.00[CEU][hapmap];0.88[YRI][hapmap]
rs7612820	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7617345	0.90[AFR][1000 genomes]
rs7625295	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7626470	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7634307	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7640842	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7642779	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7647409	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7649603	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9311451	1.00[EUR][1000 genomes]
rs9311453	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814606	0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814874	1.00[CEU][hapmap]
rs9817768	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9828829	1.00[CEU][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9832993	0.82[EUR][1000 genomes]
rs9837658	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9837861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9843693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9854585	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9863307	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883635	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9990256	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
7	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50492600-50528400	Weak transcription	Gastric	stomach
2	chr3:50493000-50518600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:50493800-50518800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr3:50502600-50515600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:50502800-50520800	Weak transcription	Brain Anterior Caudate	brain
6	chr3:50508600-50512600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:50508600-50512800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr3:50508800-50517000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:50509000-50512800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr3:50509000-50512800	Enhancers	Fetal Muscle Trunk	muscle
11	chr3:50509200-50517000	Weak transcription	Fetal Stomach	stomach
12	chr3:50509400-50513000	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr3:50509600-50513000	Enhancers	Fetal Muscle Leg	muscle
14	chr3:50509800-50512600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr3:50510000-50518600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr3:50510200-50517400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:50510600-50512600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:50510800-50512400	Enhancers	Right Ventricle	heart
19	chr3:50511000-50512200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:50511200-50512800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr3:50511400-50513000	Enhancers	Right Atrium	heart
22	chr3:50511400-50513000	Enhancers	Stomach Smooth Muscle	stomach
23	chr3:50511600-50512800	Enhancers	Brain Angular Gyrus	brain
24	chr3:50511600-50513000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:50511600-50518600	Weak transcription	Lung	lung
26	chr3:50511800-50512600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr3:50511800-50512800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:50511800-50512800	Enhancers	Fetal Lung	lung
29	chr3:50511800-50512800	Enhancers	HSMMtube	muscle
30	chr3:50512000-50512600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr3:50512000-50512600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:50512000-50512600	Enhancers	HSMM	muscle
33	chr3:50512000-50512600	Enhancers	K562	blood
34	chr3:50512000-50512600	Enhancers	NH-A	brain
35	chr3:50512000-50512800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:50512000-50512800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr3:50512000-50512800	Enhancers	HUVEC	blood vessel
38	chr3:50512000-50523000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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