Variant report

Variant	rs6737967
Chromosome Location	chr2:10162475-10162476
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9768532..9771052-chr2:10161123..10163614,2	MCF-7	breast:
2	chr2:10159210..10161560-chr2:10162271..10163980,2	MCF-7	breast:
3	chr2:10161971..10164798-chr2:10188139..10189734,2	MCF-7	breast:
4	chr2:10145505..10148443-chr2:10162001..10164011,2	K562	blood:
5	chr2:10159162..10163514-chr2:10181699..10184437,5	MCF-7	breast:
6	chr2:10161891..10163621-chr2:10174546..10176948,2	MCF-7	breast:
7	chr2:10160149..10163716-chr2:10178459..10180847,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRHL1-1	chr2:10161705-10162952	ENSG00000260476.1

No data

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000188525	Chromatin interaction
ENSG00000260077	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13027081	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4073397	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4073398	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4669494	1.00[YRI][hapmap]
rs62127528	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6716186	0.82[JPT][hapmap]
rs6756056	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6737967	KCNF1	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10159200-10163400	Enhancers	Placenta	Placenta
2	chr2:10159800-10167600	Weak transcription	Right Atrium	heart
3	chr2:10160200-10168000	Weak transcription	Spleen	Spleen
4	chr2:10160400-10175000	Weak transcription	Liver	Liver
5	chr2:10161800-10162600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:10161800-10162600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:10161800-10163600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:10162000-10162600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:10162000-10163400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr2:10162000-10164000	Enhancers	Fetal Intestine Small	intestine
11	chr2:10162000-10164200	Enhancers	Fetal Intestine Large	intestine
12	chr2:10162400-10163000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:10162400-10168200	Weak transcription	K562	blood

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