Variant report

Variant	rs4281291
Chromosome Location	chr1:180337243-180337244
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 151 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10157891	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10733004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs10733005	0.85[EUR][1000 genomes]
rs10737343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10737345	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753210	1.00[ASN][1000 genomes]
rs10753213	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753214	1.00[ASN][1000 genomes]
rs10753217	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10798744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798749	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798763	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10798764	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913972	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914011	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10914019	1.00[ASN][1000 genomes]
rs10914020	1.00[ASN][1000 genomes]
rs1094597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1094598	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1094599	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12077904	1.00[ASN][1000 genomes]
rs12144149	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565152	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339722	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339723	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339726	1.00[ASN][1000 genomes]
rs1361363	1.00[ASN][1000 genomes]
rs1361628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556935	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1556938	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1591898	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16855837	0.81[AFR][1000 genomes]
rs1934411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1935283	1.00[ASN][1000 genomes]
rs1961741	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2153327	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2153753	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2262371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2331739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331742	0.81[EUR][1000 genomes]
rs2764432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764434	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764437	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764440	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764442	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764444	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764449	1.00[JPT][hapmap]
rs2764451	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2764452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2764453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2764454	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2764456	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764457	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764458	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764459	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764462	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764467	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794965	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2794966	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794967	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794968	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794969	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794971	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794972	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794974	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794975	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2794976	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4259605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4304539	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4333819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4532796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4540612	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4609392	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4651061	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4651066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4651067	1.00[ASN][1000 genomes]
rs4652501	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4652502	0.96[EUR][1000 genomes]
rs4652506	1.00[ASN][1000 genomes]
rs4652510	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61811560	1.00[ASN][1000 genomes]
rs6425620	1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425621	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425622	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425623	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425624	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425626	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425642	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6659147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665615	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667478	1.00[ASN][1000 genomes]
rs6669304	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677367	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678261	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6680754	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6682067	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6683484	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684842	1.00[ASN][1000 genomes]
rs6687873	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6691333	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6695360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704334	1.00[JPT][hapmap]
rs74132465	0.81[AFR][1000 genomes]
rs74132476	0.91[AFR][1000 genomes]
rs7515052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526743	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529042	0.81[ASN][1000 genomes]
rs7530015	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs7532972	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542568	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7543143	1.00[ASN][1000 genomes]
rs7546030	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548707	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7548884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7555087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822703	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs822705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs863720	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs863721	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880911	0.91[EUR][1000 genomes]
rs912766	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs9425879	1.00[ASN][1000 genomes]
rs946633	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs946635	1.00[CEU][hapmap];0.91[EUR][1000 genomes]

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	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv527918	chr1:180279710-180443808	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013716	chr1:180287338-180477072	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv535221	chr1:180287338-180477072	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
6	esv2762200	chr1:180300936-180493841	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
7	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats 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 miRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180309600-180345400	Weak transcription	Primary T cells from cord blood	blood
2	chr1:180310000-180348200	Weak transcription	Primary B cells from cord blood	blood
3	chr1:180314000-180345800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:180324000-180341600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:180330200-180338200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:180330200-180345400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:180330600-180349000	Weak transcription	HMEC	breast
8	chr1:180333000-180356200	Weak transcription	Ovary	ovary
9	chr1:180333400-180338200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:180333600-180343400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:180334200-180348000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:180335600-180338400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:180335800-180338200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:180335800-180343200	Weak transcription	Fetal Lung	lung
15	chr1:180335800-180349000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:180336200-180338200	Weak transcription	Small Intestine	intestine
17	chr1:180336200-180340400	Weak transcription	HSMM	muscle
18	chr1:180336200-180340600	Weak transcription	Osteobl	bone
19	chr1:180336200-180344400	Weak transcription	Psoas Muscle	Psoas
20	chr1:180336200-180347600	Weak transcription	NHDF-Ad	bronchial
21	chr1:180337000-180349000	Weak transcription	Esophagus	oesophagus

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