Variant report

Variant	rs7533389
Chromosome Location	chr1:180339898-180339899
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180329129..180331822-chr1:180337969..180339999,2	K562	blood:
2	chr1:180338679..180340699-chr1:180366769..180368773,2	K562	blood:
3	chr1:180334858..180337165-chr1:180338509..180341951,3	K562	blood:
4	chr1:180334858..180336416-chr1:180338509..180341789,3	K562	blood:
5	chr1:180338174..180341966-chr1:180380791..180382462,3	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10494528	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs10494529	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs1069436	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913988	1.00[CEU][hapmap]
rs10913991	1.00[CEU][hapmap]
rs10913992	1.00[CEU][hapmap]
rs10914012	1.00[CEU][hapmap]
rs12070624	0.82[CEU][hapmap]
rs12071353	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs12077656	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12081494	1.00[CEU][hapmap]
rs12083900	1.00[CEU][hapmap]
rs12089373	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs12093073	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs1339721	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs17373022	1.00[CHB][hapmap]
rs2254465	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764433	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2764450	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs357044	0.87[CEU][hapmap]
rs357047	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4403592	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs55660948	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333717	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60528279	0.84[EUR][1000 genomes]
rs6425635	0.86[CEU][hapmap]
rs6663823	1.00[CEU][hapmap];0.95[GIH][hapmap];0.85[TSI][hapmap]
rs6670868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670950	1.00[CEU][hapmap]
rs6673113	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs6676778	1.00[CEU][hapmap]
rs72714809	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714814	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714815	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714816	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72714819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714820	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714824	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714859	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714872	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714883	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714890	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714891	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714892	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714894	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72714896	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716605	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72716619	0.81[EUR][1000 genomes]
rs72716624	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72716634	0.83[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs72716637	0.87[ASN][1000 genomes]
rs7542223	1.00[CEU][hapmap];0.91[GIH][hapmap];0.85[TSI][hapmap]
rs7552701	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][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:31 , 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	chr1:180330200-180345400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:180330600-180349000	Weak transcription	HMEC	breast
7	chr1:180333000-180356200	Weak transcription	Ovary	ovary
8	chr1:180333600-180343400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:180334200-180348000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr1:180335800-180343200	Weak transcription	Fetal Lung	lung
11	chr1:180335800-180349000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:180336200-180340400	Weak transcription	HSMM	muscle
13	chr1:180336200-180340600	Weak transcription	Osteobl	bone
14	chr1:180336200-180344400	Weak transcription	Psoas Muscle	Psoas
15	chr1:180336200-180347600	Weak transcription	NHDF-Ad	bronchial
16	chr1:180337000-180349000	Weak transcription	Esophagus	oesophagus
17	chr1:180337800-180348000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:180338000-180342200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:180338400-180345000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:180338400-180348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:180338600-180347800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:180338600-180347800	Weak transcription	Aorta	Aorta
23	chr1:180338600-180348000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:180338600-180349000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:180338600-180349000	Weak transcription	Left Ventricle	heart
26	chr1:180339000-180342600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:180339600-180343200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:180339600-180345400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:180339600-180349000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:180339800-180340200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr1:180339800-180340800	Enhancers	HUES48 Cell Line	embryonic stem cell

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