Variant report

Variant	rs7532122
Chromosome Location	chr1:176014960-176014961
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	chr1:176007125..176010101-chr1:176013054..176015518,2	K562	blood:
2	chr1:176013463..176015137-chr1:176022558..176024430,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10429846	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798430	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798435	1.00[CHB][hapmap]
rs10913125	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13376706	1.00[ASN][1000 genomes]
rs1357338	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481626	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481629	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481632	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481636	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2481637	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481640	1.00[CHB][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481648	1.00[CHB][hapmap]
rs2481649	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502820	0.86[AFR][1000 genomes]
rs2502821	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502827	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502828	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502833	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2502837	1.00[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2774925	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233165	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4298689	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344283	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4347169	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4379645	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4460596	1.00[CHB][hapmap]
rs4534339	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4652146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533299	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs537407	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598855	1.00[CHB][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs613965	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61821055	1.00[ASN][1000 genomes]
rs6425369	1.00[CHB][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6425372	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425374	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646754	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6657278	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6674353	1.00[CHB][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687849	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704250	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704828	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704833	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72711160	1.00[ASN][1000 genomes]
rs7523048	1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525112	1.00[CHB][hapmap]
rs7541563	1.00[CHB][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554913	1.00[CHB][hapmap]
rs791748	1.00[CHB][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9425444	1.00[EUR][1000 genomes]
rs964931	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998631	1.00[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823794	chr1:175869554-176311778	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv872561	chr1:175949646-176092167	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv872562	chr1:175949646-176141866	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv872563	chr1:175949646-176184625	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175957800-176022000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:175975800-176016200	Weak transcription	HSMMtube	muscle
3	chr1:175976800-176046000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:175978200-176050600	Weak transcription	Aorta	Aorta
5	chr1:175978400-176017800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:175980200-176028000	Weak transcription	K562	blood
9	chr1:175989800-176036400	Weak transcription	Pancreas	Pancrea
10	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
11	chr1:175999000-176017000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:176001800-176016200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:176003600-176016200	Weak transcription	HMEC	breast
14	chr1:176003800-176021400	Weak transcription	Osteobl	bone
15	chr1:176004000-176018200	Weak transcription	Hela-S3	cervix
16	chr1:176004000-176021200	Weak transcription	A549	lung
17	chr1:176004000-176026400	Weak transcription	Small Intestine	intestine
18	chr1:176004000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:176004200-176016000	Weak transcription	NHEK	skin
20	chr1:176004200-176039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:176005400-176015400	Strong transcription	Dnd41	blood
22	chr1:176005600-176015400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:176005600-176015400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:176006000-176045200	Weak transcription	GM12878-XiMat	blood
25	chr1:176006200-176049000	Weak transcription	HSMM	muscle
26	chr1:176007200-176015400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr1:176007400-176015000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:176007600-176020200	Weak transcription	Fetal Heart	heart
29	chr1:176007800-176020400	Weak transcription	Fetal Brain Female	brain
30	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
31	chr1:176008200-176019000	Weak transcription	Fetal Kidney	kidney
32	chr1:176008200-176019000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:176009800-176016800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:176010200-176048000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:176010400-176016000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:176010400-176019200	Weak transcription	NHDF-Ad	bronchial
37	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:176010800-176018400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:176012000-176018600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:176012200-176015400	Strong transcription	Primary B cells from cord blood	blood
41	chr1:176012200-176024200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:176012200-176028200	Weak transcription	Fetal Intestine Small	intestine
43	chr1:176012200-176044800	Weak transcription	Fetal Stomach	stomach
44	chr1:176012200-176045200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:176012200-176045200	Weak transcription	Esophagus	oesophagus
46	chr1:176012200-176045200	Weak transcription	Fetal Lung	lung
47	chr1:176012400-176016800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:176012400-176017000	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:176012400-176019400	Weak transcription	Brain Anterior Caudate	brain
50	chr1:176012400-176019400	Weak transcription	Fetal Thymus	thymus

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