Variant report

Variant	rs6950643
Chromosome Location	chr7:7954298-7954299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:7954245-7954390	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:7951069..7953394-chr7:7953998..7956483,2	K562	blood:
2	chr7:7953946..7955659-chr7:7959073..7960806,2	K562	blood:
3	chr7:7951059..7955946-chr7:8007279..8010658,10	MCF-7	breast:
4	chr7:7952035..7955913-chr7:7956512..7960009,4	MCF-7	breast:
5	chr7:7947370..7958537-chr7:8006160..8010935,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214998	TF binding region
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10232814	0.91[ASN][1000 genomes]
rs11772651	0.93[ASN][1000 genomes]
rs12702670	0.83[ASN][1000 genomes]
rs12702673	0.83[ASN][1000 genomes]
rs12702674	0.91[ASN][1000 genomes]
rs12702675	0.92[JPT][hapmap];0.93[ASN][1000 genomes]
rs12702677	0.89[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12702678	1.00[ASN][1000 genomes]
rs12702679	0.99[ASN][1000 genomes]
rs13227740	1.00[ASN][1000 genomes]
rs2013668	0.92[CEU][hapmap];0.95[CHB][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6463746	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6463747	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs6957537	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1027770	chr7:7797431-7957507	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538722	chr7:7797431-7957507	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv917172	chr7:7854632-8807385	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv1030180	chr7:7860424-8059221	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv464304	chr7:7913819-7970560	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv606046	chr7:7913819-7970560	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3346837	chr7:7915187-8068557	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1020161	chr7:7929384-8047553	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv525502	chr7:7938596-7996590	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv606048	chr7:7938596-7996590	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv606049	chr7:7949059-7967424	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7942600-7963600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:7943000-7958800	Weak transcription	Aorta	Aorta
3	chr7:7944400-7959600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:7949200-7960200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr7:7950400-7954400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:7951400-7957800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:7953000-7954400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:7953000-7954400	Enhancers	Psoas Muscle	Psoas
9	chr7:7953400-7959800	Weak transcription	Brain Germinal Matrix	brain
10	chr7:7953600-7954800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr7:7953600-7954800	Enhancers	Hela-S3	cervix
12	chr7:7953600-7958000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:7953600-7958800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:7953600-7963200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:7953800-7957600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr7:7953800-7957800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:7953800-7958000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:7953800-7958800	Weak transcription	Liver	Liver
19	chr7:7954000-7954400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:7954000-7954600	Weak transcription	Ovary	ovary

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