Variant report

Variant	rs4129061
Chromosome Location	chr1:176014659-176014660
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	chr1:176007125..176010101-chr1:176013054..176015518,2	K562	blood:
2	chr1:176013463..176015137-chr1:176022558..176024430,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10436864	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10494499	0.90[CEU][hapmap];0.84[TSI][hapmap]
rs10737315	0.85[ASN][1000 genomes]
rs10798427	1.00[CEU][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10798428	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10913150	0.88[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11576471	0.97[ASN][1000 genomes]
rs12038027	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12404181	0.87[EUR][1000 genomes]
rs1357337	0.82[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17351808	0.90[CEU][hapmap];0.81[TSI][hapmap];0.91[EUR][1000 genomes]
rs17351933	0.90[CEU][hapmap]
rs17354252	0.90[CEU][hapmap]
rs1770643	0.91[AMR][1000 genomes]
rs2039231	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2481627	0.82[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2481634	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2481635	0.82[EUR][1000 genomes]
rs2481641	0.83[ASW][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.83[YRI][hapmap];1.00[ASN][1000 genomes]
rs2481642	0.93[ASN][1000 genomes]
rs2481647	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2481651	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481653	0.81[ASN][1000 genomes]
rs2481657	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502822	0.81[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502824	0.81[ASN][1000 genomes]
rs2502825	0.81[ASN][1000 genomes]
rs2502826	0.82[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502830	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2502832	0.82[ASW][hapmap];1.00[CEU][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2502834	0.83[ASW][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];0.90[ASN][1000 genomes]
rs2502835	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2502836	0.88[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2502841	0.88[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.92[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2502842	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2502847	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2861630	0.90[CEU][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs4307526	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4314844	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4460596	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs4601543	0.91[EUR][1000 genomes]
rs4603086	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4650934	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4652143	0.83[CHD][hapmap];0.82[ASN][1000 genomes]
rs471534	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs533403	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs553852	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56367284	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs580978	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60964243	0.84[EUR][1000 genomes]
rs61186664	0.91[EUR][1000 genomes]
rs611883	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61820953	0.84[EUR][1000 genomes]
rs61820960	0.86[EUR][1000 genomes]
rs61820965	0.91[EUR][1000 genomes]
rs61820968	0.91[EUR][1000 genomes]
rs61820999	0.86[EUR][1000 genomes]
rs61821029	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61822767	0.86[EUR][1000 genomes]
rs6425367	0.85[ASN][1000 genomes]
rs6425368	1.00[CEU][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6661828	0.85[ASN][1000 genomes]
rs6684747	0.91[AMR][1000 genomes]
rs6687043	0.82[MKK][hapmap];0.85[ASN][1000 genomes]
rs6688211	0.85[ASN][1000 genomes]
rs6704509	1.00[CEU][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs704827	0.82[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs704832	1.00[JPT][hapmap]
rs74127154	0.84[EUR][1000 genomes]
rs7517351	0.82[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.92[TSI][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7524972	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7537435	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7539247	0.83[ASW][hapmap];0.83[CHD][hapmap];0.87[MKK][hapmap];0.83[YRI][hapmap]
rs7545043	1.00[CEU][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7545639	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7546538	1.00[ASN][1000 genomes]
rs7552181	1.00[CEU][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7553184	0.83[YRI][hapmap]
rs7554913	0.90[CEU][hapmap];0.84[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs791744	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs791795	0.83[AMR][1000 genomes]
rs791800	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs791801	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9783047	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9792842	0.84[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:95 , 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	chr1:175978400-176014800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:175978400-176017800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:175978400-176069000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:175979600-176045400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:175980200-176028000	Weak transcription	K562	blood
10	chr1:175989800-176036400	Weak transcription	Pancreas	Pancrea
11	chr1:175994200-176065200	Weak transcription	Psoas Muscle	Psoas
12	chr1:175999000-176017000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:176000600-176014800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:176001800-176016200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:176003600-176016200	Weak transcription	HMEC	breast
16	chr1:176003800-176021400	Weak transcription	Osteobl	bone
17	chr1:176004000-176018200	Weak transcription	Hela-S3	cervix
18	chr1:176004000-176021200	Weak transcription	A549	lung
19	chr1:176004000-176026400	Weak transcription	Small Intestine	intestine
20	chr1:176004000-176036400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:176004200-176016000	Weak transcription	NHEK	skin
22	chr1:176004200-176039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:176005400-176015400	Strong transcription	Dnd41	blood
24	chr1:176005600-176015400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:176005600-176015400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:176006000-176045200	Weak transcription	GM12878-XiMat	blood
27	chr1:176006200-176049000	Weak transcription	HSMM	muscle
28	chr1:176007200-176015400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:176007400-176015000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:176007600-176020200	Weak transcription	Fetal Heart	heart
31	chr1:176007800-176020400	Weak transcription	Fetal Brain Female	brain
32	chr1:176007800-176066400	Weak transcription	Fetal Brain Male	brain
33	chr1:176008200-176019000	Weak transcription	Fetal Kidney	kidney
34	chr1:176008200-176019000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr1:176009800-176016800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:176010200-176048000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:176010400-176016000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:176010400-176019200	Weak transcription	NHDF-Ad	bronchial
39	chr1:176010400-176066000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:176010800-176018400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:176012000-176018600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:176012200-176015400	Strong transcription	Primary B cells from cord blood	blood
43	chr1:176012200-176024200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr1:176012200-176028200	Weak transcription	Fetal Intestine Small	intestine
45	chr1:176012200-176044800	Weak transcription	Fetal Stomach	stomach
46	chr1:176012200-176045200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:176012200-176045200	Weak transcription	Esophagus	oesophagus
48	chr1:176012200-176045200	Weak transcription	Fetal Lung	lung
49	chr1:176012400-176016800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:176012400-176017000	Weak transcription	Duodenum Mucosa	Duodenum

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