Variant report

Variant	rs10003517
Chromosome Location	chr4:99262877-99262878
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10001086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10002767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10003618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10005811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10006820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10014034	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[YRI][hapmap]
rs10022047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs10022966	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10025306	1.00[CEU][hapmap]
rs10028275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10028373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10032440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10470895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10470952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10516429	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10516431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12498440	1.00[JPT][hapmap]
rs12498745	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12499136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12499530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12500412	0.82[CHB][hapmap]
rs12501974	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12503806	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs12505246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12507118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12507425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12507859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12508322	0.82[CHB][hapmap]
rs12508445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12509125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12509417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12509834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12510055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs12512920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13353584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1399242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1399243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1453344	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1580065	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17027449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17027452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17027530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17027532	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17027533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17027543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17027545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17027549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17027552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17027564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17027585	1.00[CHB][hapmap]
rs1913489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1913490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2063746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2081490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2194896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3775537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3775538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3822115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3974886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4321644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs4593139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4699335	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4699342	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs4699622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs4699623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4699626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4699627	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4699628	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs4699629	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4699630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4699632	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4699634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6532732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs6811171	1.00[CEU][hapmap]
rs6822914	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs6828936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs6831490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs6831730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6833504	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6833596	1.00[CEU][hapmap]
rs6834829	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs6835411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs6846417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7654497	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7655147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7655427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7656017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7673119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7676060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7683964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7687685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs7694221	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs890207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs919027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs919028	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9992518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1004616	chr4:99085875-99308901	Genic enhancers Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv879652	chr4:99125659-99303633	Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99212400-99287800	Weak transcription	Thymus	Thymus
2	chr4:99215000-99317000	Weak transcription	Left Ventricle	heart
3	chr4:99223800-99288000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:99236600-99264400	Weak transcription	Liver	Liver
5	chr4:99240400-99264200	Weak transcription	HMEC	breast
6	chr4:99241400-99267000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:99252200-99264200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:99252400-99264600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr4:99252400-99265800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:99252400-99287400	Weak transcription	Aorta	Aorta
11	chr4:99254400-99286400	Weak transcription	Ovary	ovary
12	chr4:99255200-99264200	Weak transcription	Dnd41	blood
13	chr4:99255600-99264200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:99255600-99265000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:99255800-99264200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:99255800-99273400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:99256200-99287200	Weak transcription	Right Ventricle	heart
18	chr4:99256600-99286000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:99256800-99286400	Weak transcription	Fetal Intestine Small	intestine
20	chr4:99257800-99263600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:99257800-99264200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:99257800-99273200	Weak transcription	HUVEC	blood vessel
23	chr4:99258000-99264600	Weak transcription	NHLF	lung
24	chr4:99258000-99264800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:99258400-99274000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:99258600-99264200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:99258600-99264200	Weak transcription	Fetal Thymus	thymus
28	chr4:99258800-99286000	Weak transcription	Pancreas	Pancrea
29	chr4:99259200-99275800	Weak transcription	K562	blood
30	chr4:99259600-99264200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr4:99259600-99273800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr4:99259800-99273400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr4:99260200-99273600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:99260400-99264400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:99260400-99268800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:99260400-99273600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr4:99260600-99268600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:99260800-99264200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:99260800-99276600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr4:99261000-99269400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:99261200-99264200	Weak transcription	Primary B cells from cord blood	blood
42	chr4:99261200-99272600	Weak transcription	Lung	lung
43	chr4:99261400-99273600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:99262000-99263000	Enhancers	Osteobl	bone
45	chr4:99262000-99263200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:99262400-99263000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:99262400-99263000	Enhancers	Brain Angular Gyrus	brain
48	chr4:99262400-99263000	Enhancers	Fetal Brain Male	brain
49	chr4:99262400-99263200	Enhancers	NHDF-Ad	bronchial
50	chr4:99262400-99264200	Weak transcription	Primary monocytes fromperipheralblood	blood

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