Variant report

Variant	rs6962531
Chromosome Location	chr7:13097797-13097798
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13094404..13096720-chr7:13097474..13099748,2	K562	blood:
2	chr7:12970290..12973079-chr7:13097205..13098974,2	K562	blood:
3	chr7:13095947..13098043-chr7:13101119..13103304,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10227653	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10238713	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17166661	0.95[ASN][1000 genomes]
rs17630382	0.95[ASN][1000 genomes]
rs2357193	1.00[JPT][hapmap]
rs28460172	0.93[ASN][1000 genomes]
rs28758813	0.87[ASN][1000 genomes]
rs4721183	1.00[JPT][hapmap]
rs6460998	0.80[ASN][1000 genomes]
rs6980284	0.80[ASN][1000 genomes]
rs73065466	0.95[ASN][1000 genomes]
rs7782030	0.82[ASN][1000 genomes]
rs7782472	0.82[ASN][1000 genomes]
rs7801646	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv606235	chr7:12781381-13205950	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1020568	chr7:12802640-13183737	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1029771	chr7:12927648-13153855	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv538736	chr7:12927648-13153855	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026624	chr7:12963907-13123408	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1019173	chr7:13063854-13585360	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv538737	chr7:13063854-13585360	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv887643	chr7:13086613-13211263	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1027572	chr7:13093204-13130069	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1029105	chr7:13093939-13123408	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv1026055	chr7:13093939-13130069	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1016921	chr7:13093939-13130645	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv1026551	chr7:13093939-13130746	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13090200-13102600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:13095000-13103800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:13095200-13097800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:13096800-13097800	Flanking Active TSS	HUVEC	blood vessel
5	chr7:13096800-13098000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr7:13097000-13097800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr7:13097000-13097800	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr7:13097000-13097800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr7:13097000-13097800	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:13097000-13098400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:13097200-13097800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:13097200-13097800	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr7:13097200-13097800	Active TSS	Duodenum Mucosa	Duodenum
14	chr7:13097400-13097800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:13097400-13097800	Active TSS	Fetal Lung	lung
16	chr7:13097400-13098600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr7:13097600-13097800	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr7:13097600-13097800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr7:13097600-13097800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:13097600-13097800	Flanking Active TSS	GM12878-XiMat	blood
21	chr7:13097600-13097800	Enhancers	K562	blood

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