Variant report

Variant	rs12503056
Chromosome Location	chr4:99369061-99369062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99368820..99371256-chr4:99372389..99374542,2	K562	blood:

Extended variants
information (count: 118 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10001086	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs10002767	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[YRI][hapmap]
rs10003517	1.00[CEU][hapmap]
rs10003618	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs10005811	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[TSI][hapmap]
rs10006820	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs10010135	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs10014034	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs10017792	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10022047	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[TSI][hapmap]
rs10022966	1.00[CEU][hapmap]
rs10025306	1.00[CEU][hapmap]
rs10028275	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];1.00[TSI][hapmap]
rs10028373	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs10030765	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10032440	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs10470895	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10470952	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs10516429	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs10516431	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs12498745	0.82[CHB][hapmap]
rs12499136	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs12499530	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs12501972	1.00[ASN][1000 genomes]
rs12501974	0.82[CHB][hapmap]
rs12503806	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs12505246	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap]
rs12507118	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs12507425	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap]
rs12507859	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs12508322	0.82[CHB][hapmap];0.86[ASN][1000 genomes]
rs12508445	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs12509125	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs12509417	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs12509834	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs12510055	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs12512920	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs13353584	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs1399242	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs1399243	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1453344	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs1580065	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs17027449	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17027452	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs17027530	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs17027532	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17027533	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs17027543	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap]
rs17027545	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17027549	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs17027552	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs17027564	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap]
rs17027585	0.82[CHB][hapmap]
rs17027603	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1913488	1.00[ASN][1000 genomes]
rs1913489	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs1913490	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2063745	0.88[CHD][hapmap];0.90[GIH][hapmap];0.92[TSI][hapmap]
rs2063746	1.00[CEU][hapmap]
rs2081490	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs2090118	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2194896	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs28416087	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28568441	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28733733	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28798461	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3775537	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs3775538	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs3822115	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[YRI][hapmap]
rs3974886	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.92[TSI][hapmap]
rs4321644	1.00[CEU][hapmap]
rs4593139	1.00[CEU][hapmap]
rs4699342	1.00[CEU][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4699622	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs4699623	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4699626	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs4699627	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4699628	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs4699629	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4699630	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4699631	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4699632	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4699634	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs6532732	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs6811171	1.00[CEU][hapmap]
rs6822914	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs6828936	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs6831490	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs6831730	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap]
rs6833504	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap]
rs6833596	1.00[CEU][hapmap]
rs6834829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6835411	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs6835676	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6845766	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6846417	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs73832309	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654497	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs7655147	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7655427	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7656017	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7664210	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7673119	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7675605	0.97[ASN][1000 genomes]
rs7676060	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7676285	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7683964	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs7687685	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs7694221	0.82[CHB][hapmap];1.00[CHD][hapmap]
rs890207	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs919027	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap]
rs919028	1.00[CEU][hapmap];0.85[CHD][hapmap]
rs9992518	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
3	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
4	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
5	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99337600-99369800	Weak transcription	Fetal Heart	heart
2	chr4:99339000-99370200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:99340800-99370600	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:99342800-99370000	Weak transcription	Placenta	Placenta
5	chr4:99346400-99371200	Weak transcription	Fetal Brain Female	brain
6	chr4:99356400-99370200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:99356400-99370600	Weak transcription	Fetal Stomach	stomach
8	chr4:99356800-99370400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:99363400-99372400	Weak transcription	Fetal Intestine Small	intestine
10	chr4:99363800-99370200	Weak transcription	Brain Substantia Nigra	brain
11	chr4:99363800-99370600	Weak transcription	NHLF	lung
12	chr4:99363800-99371600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:99363800-99372600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:99364000-99380800	Weak transcription	Brain Angular Gyrus	brain
15	chr4:99364200-99370800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:99364200-99372400	Weak transcription	Fetal Intestine Large	intestine
17	chr4:99364800-99369800	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:99364800-99370000	Weak transcription	Left Ventricle	heart
19	chr4:99364800-99370000	Weak transcription	Lung	lung
20	chr4:99364800-99370600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:99365000-99372800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:99365600-99370000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:99365600-99370800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:99365600-99373400	Weak transcription	Aorta	Aorta
25	chr4:99365800-99369800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:99365800-99370200	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:99366000-99370600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:99366600-99370800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr4:99366600-99371000	Enhancers	HMEC	breast
30	chr4:99367000-99369800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:99367000-99371200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:99367200-99370800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:99367200-99370800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:99367200-99371000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:99367200-99371000	Enhancers	Fetal Thymus	thymus
36	chr4:99367200-99371000	Enhancers	HSMMtube	muscle
37	chr4:99367400-99369400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr4:99367400-99369400	Enhancers	Small Intestine	intestine
39	chr4:99367400-99370600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr4:99367400-99370800	Enhancers	NHEK	skin
41	chr4:99367400-99371800	Enhancers	HSMM	muscle
42	chr4:99367800-99369200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:99367800-99369400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr4:99368200-99370000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:99368200-99370800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr4:99368200-99371000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr4:99368200-99371000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr4:99368200-99373200	Weak transcription	Osteobl	bone
49	chr4:99368400-99370200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:99368400-99370600	Enhancers	Spleen	Spleen

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