Variant report

Variant	rs6461817
Chromosome Location	chr7:3109425-3109426
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11761991	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12700542	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13221367	0.90[EUR][1000 genomes]
rs13223548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13234017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1872879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2396959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2396960	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6978200	0.93[AMR][1000 genomes];0.92[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	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	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
4	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
5	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
6	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
7	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
8	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
9	nsv887318	chr7:3099853-3127784	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv887319	chr7:3099853-3134593	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3584544	chr7:3107079-3127923	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr7:3102000-3113800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:3102600-3109800	Enhancers	Primary B cells from cord blood	blood
3	chr7:3103200-3110200	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr7:3103200-3110400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr7:3103200-3110400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr7:3103200-3110800	Enhancers	Primary T cells fromperipheralblood	blood
7	chr7:3103200-3111000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:3103400-3109600	Enhancers	GM12878-XiMat	blood
9	chr7:3104800-3109800	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:3105800-3113600	Weak transcription	Aorta	Aorta
11	chr7:3106400-3110000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:3107000-3110200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:3107600-3110000	Enhancers	Primary hematopoietic stem cells	blood
14	chr7:3107800-3110000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:3108000-3110000	Enhancers	Primary T cells from cord blood	blood
16	chr7:3108400-3110400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:3108600-3109800	Enhancers	Fetal Thymus	thymus
18	chr7:3108800-3111600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:3109000-3110000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:3109200-3109800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:3109200-3109800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr7:3109200-3109800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr7:3109200-3110000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr7:3109400-3109600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:3109400-3109800	Enhancers	H9 Cell Line	embryonic stem cell
26	chr7:3109400-3109800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:3109400-3109800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr7:3109400-3109800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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