Variant report

Variant	rs4725044
Chromosome Location	chr7:7942576-7942577
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	POLR2A	chr7:7942548-7942578	Gliobla	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7935711..7938261-chr7:7941744..7943349,2	K562	blood:
2	chr7:7941789..7943515-chr7:8007285..8009574,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-534P	TF binding region
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1016750	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs10243568	0.91[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs10952080	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs10952081	0.91[EUR][1000 genomes]
rs12668922	0.91[EUR][1000 genomes]
rs2109973	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28817895	0.93[EUR][1000 genomes]
rs4720759	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6952032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73674721	0.91[EUR][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	nsv606047	chr7:7929851-7946400	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	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
14	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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7915800-7943000	Weak transcription	Gastric	stomach
2	chr7:7930200-7951000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:7935000-7951600	Weak transcription	Pancreas	Pancrea
4	chr7:7935400-7952600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:7935600-7949000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:7938800-7950600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:7939000-7942600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:7941600-7943000	Enhancers	Fetal Heart	heart
9	chr7:7942200-7942800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:7942400-7942600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:7942400-7942600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:7942400-7942600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:7942400-7942800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:7942400-7942800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:7942400-7942800	Enhancers	Primary T cells from cord blood	blood
16	chr7:7942400-7942800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr7:7942400-7942800	Enhancers	Right Ventricle	heart
18	chr7:7942400-7943000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr7:7942400-7943000	Strong transcription	Aorta	Aorta
20	chr7:7942400-7943000	Enhancers	Left Ventricle	heart
21	chr7:7942400-7943000	Enhancers	Right Atrium	heart
22	chr7:7942400-7943000	Enhancers	Thymus	Thymus
23	chr7:7942400-7943400	Enhancers	Fetal Thymus	thymus
24	chr7:7942400-7943600	Enhancers	Dnd41	blood

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