Variant report

Variant	rs59614932
Chromosome Location	chr7:3013255-3013256
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:18)

rs_ID	r²[population]
rs11762783	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11762876	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11766536	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11769839	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57854338	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58137198	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60188883	0.86[ASN][1000 genomes]
rs60786703	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6949660	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6972173	0.85[AFR][1000 genomes]
rs73037550	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73037555	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73287235	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73287256	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73287259	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7778728	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7782108	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7805953	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022612	chr7:2789555-3019200	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1022938	chr7:2899514-3131881	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv605873	chr7:2920067-3204177	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1025727	chr7:2938301-3064008	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS 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	4 gene(s)	inside rSNPs	diseases
5	nsv1026476	chr7:2965034-3311344	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv538656	chr7:2965034-3311344	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv464260	chr7:2966138-3315572	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv605874	chr7:2966138-3315572	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1018287	chr7:2967524-3298539	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv538657	chr7:2967524-3298539	Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3007200-3018000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:3007200-3018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:3007200-3018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:3010000-3013400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr7:3010600-3015600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:3010600-3015800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:3010800-3013400	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr7:3010800-3014200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:3011000-3013400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr7:3011000-3018200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:3011200-3013600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:3011200-3018000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:3011400-3018000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:3011400-3018000	Weak transcription	Fetal Intestine Small	intestine
15	chr7:3011800-3015400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:3012200-3017400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:3012400-3013400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:3012600-3013400	Strong transcription	Thymus	Thymus
19	chr7:3012600-3013400	Genic enhancers	GM12878-XiMat	blood
20	chr7:3012600-3016800	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr7:3012600-3016800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:3012800-3014600	Strong transcription	Primary B cells from cord blood	blood
23	chr7:3012800-3015800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr7:3012800-3017400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr7:3013000-3014400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:3013000-3015600	Strong transcription	Primary T cells from cord blood	blood
27	chr7:3013000-3016000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:3013200-3017000	Weak transcription	Fetal Thymus	thymus
29	chr7:3013200-3017800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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