Variant report

Variant	rs107457
Chromosome Location	chr3:50637994-50637995
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50373496..50376492-chr3:50637687..50640592,4	K562	blood:
2	chr3:50626963..50632967-chr3:50633102..50640850,17	K562	blood:
3	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
4	chr3:50613663..50623986-chr3:50635558..50652363,41	MCF-7	breast:
5	chr3:50596509..50599002-chr3:50637858..50640256,2	MCF-7	breast:
6	chr3:50382035..50386464-chr3:50636911..50639420,4	MCF-7	breast:
7	chr3:50373496..50376047-chr3:50637819..50639325,2	K562	blood:

Variant related genes	Relation type
ENSG00000088543	Chromatin interaction
ENSG00000068028	Chromatin interaction
ENSG00000114388	Chromatin interaction
ENSG00000114735	Chromatin interaction
ENSG00000004838	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1038415	0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13325937	0.83[AMR][1000 genomes]
rs1552255	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1552256	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17051012	1.00[EUR][1000 genomes]
rs17051016	1.00[EUR][1000 genomes]
rs17051017	1.00[EUR][1000 genomes]
rs17051404	1.00[EUR][1000 genomes]
rs1843073	0.83[ASW][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs201194	0.88[LWK][hapmap]
rs201198	0.88[LWK][hapmap]
rs2129069	0.83[AMR][1000 genomes]
rs2232251	1.00[EUR][1000 genomes]
rs2262848	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2355337	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2355701	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2459450	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2608994	0.83[AMR][1000 genomes]
rs2608996	0.83[AMR][1000 genomes]
rs2609004	0.83[ASW][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs2609014	0.83[AMR][1000 genomes]
rs2609015	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2609027	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2609030	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675775	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs2675781	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675785	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675797	0.83[AMR][1000 genomes]
rs2675798	0.83[AMR][1000 genomes]
rs2675815	0.83[AMR][1000 genomes]
rs2675823	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675824	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675826	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675833	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs407164	0.83[ASW][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs421689	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4234694	0.83[ASW][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4234695	0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4267639	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs4340700	0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4423762	0.83[AMR][1000 genomes]
rs4688704	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55852678	1.00[EUR][1000 genomes]
rs56112107	1.00[EUR][1000 genomes]
rs56198179	1.00[EUR][1000 genomes]
rs56341000	1.00[EUR][1000 genomes]
rs56413944	1.00[EUR][1000 genomes]
rs57756789	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57987466	1.00[EUR][1000 genomes]
rs58854038	1.00[EUR][1000 genomes]
rs58911362	1.00[EUR][1000 genomes]
rs59065723	1.00[EUR][1000 genomes]
rs59337835	1.00[EUR][1000 genomes]
rs59340349	1.00[EUR][1000 genomes]
rs60132317	1.00[EUR][1000 genomes]
rs60455882	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs609678	1.00[EUR][1000 genomes]
rs61032466	1.00[EUR][1000 genomes]
rs61455710	1.00[EUR][1000 genomes]
rs621975	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs628865	0.83[ASW][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6446223	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs650473	0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs665943	1.00[EUR][1000 genomes]
rs6768539	1.00[EUR][1000 genomes]
rs6789552	1.00[EUR][1000 genomes]
rs6807662	0.83[AMR][1000 genomes]
rs73833231	1.00[EUR][1000 genomes]
rs73833232	1.00[EUR][1000 genomes]
rs73833239	1.00[EUR][1000 genomes]
rs73833247	1.00[EUR][1000 genomes]
rs73833251	0.83[AMR][1000 genomes]
rs73833935	1.00[EUR][1000 genomes]
rs73835518	1.00[EUR][1000 genomes]
rs73835533	1.00[EUR][1000 genomes]
rs73835535	1.00[EUR][1000 genomes]
rs73835537	1.00[EUR][1000 genomes]
rs73835538	1.00[EUR][1000 genomes]
rs936714	0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9825283	0.80[YRI][hapmap]
rs9840476	0.83[ASW][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9851304	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9854588	0.83[AMR][1000 genomes]
rs9857033	0.81[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50628600-50638200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:50635600-50638800	Enhancers	Colon Smooth Muscle	Colon
3	chr3:50635800-50638000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr3:50635800-50638200	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr3:50635800-50638200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:50635800-50638200	Enhancers	HepG2	liver
7	chr3:50635800-50638600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr3:50635800-50640400	Enhancers	Placenta	Placenta
9	chr3:50636000-50638000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr3:50636000-50638200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr3:50636000-50638400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr3:50636000-50638600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr3:50636000-50638800	Enhancers	Right Ventricle	heart
14	chr3:50636000-50641200	Enhancers	Lung	lung
15	chr3:50636000-50641400	Enhancers	Fetal Thymus	thymus
16	chr3:50636000-50641600	Enhancers	Esophagus	oesophagus
17	chr3:50636200-50638800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:50636200-50639000	Enhancers	Liver	Liver
19	chr3:50636200-50640600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:50636400-50638800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr3:50636400-50640600	Enhancers	Right Atrium	heart
22	chr3:50636400-50641000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:50636400-50641600	Enhancers	Pancreas	Pancrea
24	chr3:50636600-50638000	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr3:50636600-50638400	Enhancers	Ovary	ovary
26	chr3:50636600-50638400	Enhancers	HSMMtube	muscle
27	chr3:50636600-50638800	Enhancers	Fetal Intestine Large	intestine
28	chr3:50636600-50638800	Enhancers	Fetal Muscle Trunk	muscle
29	chr3:50636600-50639000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:50636600-50639200	Enhancers	Fetal Muscle Leg	muscle
31	chr3:50636600-50639600	Enhancers	Spleen	Spleen
32	chr3:50636600-50640400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr3:50636600-50640600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr3:50636600-50643600	Enhancers	Left Ventricle	heart
35	chr3:50636800-50638400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr3:50636800-50640600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr3:50636800-50641600	Enhancers	Gastric	stomach
38	chr3:50636800-50646000	Genic enhancers	Fetal Intestine Small	intestine
39	chr3:50637000-50638200	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr3:50637000-50638600	Enhancers	Primary neutrophils fromperipheralblood	blood
41	chr3:50637000-50638600	Enhancers	Primary T cells from cord blood	blood
42	chr3:50637000-50638800	Enhancers	HSMM	muscle
43	chr3:50637000-50639000	Enhancers	Fetal Lung	lung
44	chr3:50637000-50639800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr3:50637000-50640400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr3:50637000-50640400	Enhancers	Brain Angular Gyrus	brain
47	chr3:50637000-50640800	Enhancers	Primary hematopoietic stem cells	blood
48	chr3:50637200-50638000	Enhancers	Rectal Smooth Muscle	rectum
49	chr3:50637200-50638800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:50637200-50638800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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