Variant report

Variant	rs2630187
Chromosome Location	chr3:60062698-60062699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs172454	0.88[CHB][hapmap];0.90[CHD][hapmap];0.91[MEX][hapmap];0.88[ASN][1000 genomes]
rs182418	0.82[CHB][hapmap]
rs211999	0.83[ASN][1000 genomes]
rs212049	0.82[CHB][hapmap]
rs212064	0.85[EUR][1000 genomes]
rs212065	0.82[CHB][hapmap]
rs212066	0.82[CHB][hapmap]
rs2630207	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2736760	0.91[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2736761	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2736762	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2736764	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2736765	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736766	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2736767	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2736769	0.91[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2736819	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3845976	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][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]
rs6807325	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7433134	0.94[CHB][hapmap]
rs7433793	0.89[TSI][hapmap];0.80[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	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv590387	chr3:59890976-60481459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv834707	chr3:60005679-60184046	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv520108	chr3:60059041-60062939	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv523496	chr3:60059041-60064296	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv519729	chr3:60062654-60064296	Weak transcription Flanking Active TSS Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60051800-60063000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:60059800-60064800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:60061000-60064000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr3:60061400-60062800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:60061400-60063400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr3:60061600-60062800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:60061600-60063000	Enhancers	Primary B cells from cord blood	blood
8	chr3:60061600-60063200	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr3:60061800-60063000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:60061800-60064200	Weak transcription	Fetal Thymus	thymus
11	chr3:60061800-60066400	Weak transcription	Brain Substantia Nigra	brain
12	chr3:60061800-60068400	Flanking Active TSS	Dnd41	blood
13	chr3:60062200-60063200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr3:60062400-60062800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:60062400-60063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:60062400-60063200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:60062400-60064600	Weak transcription	Thymus	Thymus
18	chr3:60062400-60065200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:60062400-60066200	Weak transcription	Stomach Mucosa	stomach
20	chr3:60062400-60066400	Weak transcription	Brain Anterior Caudate	brain
21	chr3:60062400-60066400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:60062600-60062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:60062600-60063600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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