Variant report

Variant	rs73287242
Chromosome Location	chr7:3011770-3011771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2894775	1.00[ASN][1000 genomes]
rs41490647	1.00[ASN][1000 genomes]
rs56822504	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61595700	1.00[ASN][1000 genomes]
rs6952372	1.00[ASN][1000 genomes]
rs6966278	1.00[ASN][1000 genomes]
rs6966479	1.00[ASN][1000 genomes]
rs6972173	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73288564	1.00[ASN][1000 genomes]
rs7780173	1.00[ASN][1000 genomes]
rs7795713	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	esv3407763	chr7:3007326-3012224	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3006200-3011800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr7:3006600-3013000	Weak transcription	Spleen	Spleen
3	chr7:3006800-3011800	Weak transcription	Thymus	Thymus
4	chr7:3007200-3018000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:3007200-3018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:3007200-3018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:3008400-3011800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr7:3008400-3011800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:3008800-3012600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:3009800-3012600	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:3010000-3013400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:3010400-3011800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:3010600-3015600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:3010600-3015800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:3010800-3013400	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr7:3010800-3014200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:3011000-3012000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:3011000-3012000	Enhancers	GM12878-XiMat	blood
19	chr7:3011000-3013400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr7:3011000-3018200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:3011200-3012200	Genic enhancers	Primary B cells from cord blood	blood
22	chr7:3011200-3013000	Genic enhancers	Primary T cells from cord blood	blood
23	chr7:3011200-3013000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr7:3011200-3013600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:3011200-3018000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:3011400-3018000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:3011400-3018000	Weak transcription	Fetal Intestine Small	intestine
28	chr7:3011600-3011800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr7:3011600-3012600	Enhancers	Fetal Thymus	thymus
30	chr7:3011600-3012800	Enhancers	Primary hematopoietic stem cells	blood

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