Variant report

Variant	rs7595798
Chromosome Location	chr2:149289270-149289271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10164839	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10210601	1.00[CHB][hapmap]
rs10497036	0.90[EUR][1000 genomes]
rs11901990	0.88[EUR][1000 genomes]
rs12691798	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1448894	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16828945	0.90[EUR][1000 genomes]
rs16829008	0.90[EUR][1000 genomes]
rs16829022	0.80[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes]
rs16829052	1.00[CHB][hapmap]
rs2382229	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2890923	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4972370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430319	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6430320	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6430321	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6430331	0.80[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs6712173	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6715405	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6721673	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6725114	1.00[CHB][hapmap]
rs6740827	0.82[CHB][hapmap]
rs6760718	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7583200	0.80[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs7592501	0.90[EUR][1000 genomes]
rs881184	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv527539	chr2:149283070-149330251	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3426219	chr2:149286782-149290980	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 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	chr2:149247600-149291000	Weak transcription	Spleen	Spleen
2	chr2:149281400-149292200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:149281400-149296400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:149284400-149290600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:149286200-149289800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:149286200-149295800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:149286400-149289600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr2:149286400-149290800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:149286800-149289400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:149287800-149291000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:149288000-149290400	Weak transcription	Fetal Thymus	thymus
12	chr2:149288400-149290200	Enhancers	Fetal Heart	heart
13	chr2:149288800-149289600	Enhancers	Right Atrium	heart
14	chr2:149288800-149290000	Enhancers	Left Ventricle	heart
15	chr2:149288800-149290000	Enhancers	Right Ventricle	heart
16	chr2:149288800-149290200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:149288800-149296800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr2:149289000-149289400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:149289000-149289800	Enhancers	Primary T cells fromperipheralblood	blood
20	chr2:149289200-149289400	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:149289200-149289600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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