Variant report

Variant	rs12530632
Chromosome Location	chr7:3024950-3024951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1078230	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535598	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536249	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536265	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17736807	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17737044	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41373352	1.00[ASN][1000 genomes]
rs41386651	1.00[ASN][1000 genomes]
rs41466946	1.00[ASN][1000 genomes]
rs41467947	1.00[ASN][1000 genomes]
rs4428569	1.00[ASN][1000 genomes]
rs61731201	1.00[ASN][1000 genomes]
rs6955350	1.00[ASN][1000 genomes]
rs9648301	1.00[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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3019000-3026000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr7:3019200-3035800	Weak transcription	Gastric	stomach
3	chr7:3019800-3049000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:3020000-3025600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr7:3020000-3025800	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr7:3020000-3026800	Weak transcription	Fetal Intestine Small	intestine
7	chr7:3020600-3025600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:3020600-3033000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:3021000-3026800	Genic enhancers	Primary B cells from peripheral blood	blood
10	chr7:3021200-3027800	Weak transcription	Spleen	Spleen
11	chr7:3022200-3025800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr7:3022600-3025800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr7:3022800-3026000	Weak transcription	GM12878-XiMat	blood
14	chr7:3022800-3032800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:3023000-3027200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:3023800-3025400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr7:3023800-3025600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:3023800-3033000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:3023800-3049600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:3024000-3025000	Weak transcription	Primary T cells from cord blood	blood
21	chr7:3024000-3025000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:3024000-3025000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:3024000-3025000	Weak transcription	Thymus	Thymus
24	chr7:3024000-3025600	Weak transcription	Primary B cells from cord blood	blood
25	chr7:3024000-3026000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:3024000-3030600	Weak transcription	Fetal Thymus	thymus
27	chr7:3024600-3026200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:3024800-3032600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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