Variant report

Variant	rs847650
Chromosome Location	chr7:102557375-102557376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:22132336..22133254-chr7:102557291..102557936,2	MCF-7	breast:
2	chr7:102556325..102558865-chr7:102559053..102562636,3	K562	blood:
3	chr7:102556611..102558865-chr7:102559053..102561670,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10259205	0.84[LWK][hapmap];0.89[MKK][hapmap]
rs10278727	1.00[MEX][hapmap];0.91[MKK][hapmap]
rs10281799	0.87[YRI][hapmap]
rs10808121	0.82[ASW][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap]
rs11560367	1.00[MEX][hapmap]
rs13242079	1.00[MEX][hapmap]
rs1404213	1.00[MEX][hapmap]
rs1524421	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1533999	1.00[AMR][1000 genomes]
rs1543987	1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[AMR][1000 genomes]
rs1608650	1.00[AMR][1000 genomes]
rs1968199	1.00[MEX][hapmap]
rs2041949	1.00[MEX][hapmap]
rs2140621	0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap]
rs2177550	0.82[ASW][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap]
rs2193418	1.00[MEX][hapmap]
rs2898638	1.00[MEX][hapmap];0.86[MKK][hapmap]
rs3181009	1.00[MEX][hapmap]
rs4255065	0.84[LWK][hapmap];0.89[MKK][hapmap]
rs4576360	1.00[MEX][hapmap];0.86[MKK][hapmap]
rs4727558	0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap]
rs4729872	1.00[MEX][hapmap]
rs6465883	0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap]
rs6465888	1.00[MEX][hapmap];0.86[MKK][hapmap]
rs6465890	1.00[MEX][hapmap]
rs6945963	1.00[AMR][1000 genomes]
rs6950177	1.00[MEX][hapmap]
rs6958533	0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap]
rs7341515	1.00[MEX][hapmap];0.91[MKK][hapmap]
rs7783856	1.00[MEX][hapmap]
rs7784337	1.00[MEX][hapmap]
rs7805950	0.82[ASW][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap]
rs7806136	1.00[MEX][hapmap];0.85[MKK][hapmap]
rs7806691	0.92[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap]
rs7809075	1.00[MEX][hapmap];0.83[MKK][hapmap]
rs847651	1.00[AMR][1000 genomes]
rs847653	0.84[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap]
rs9649252	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription 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 miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv464667	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv608060	chr7:102486254-102624192	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102517200-102578200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr7:102548200-102558000	Weak transcription	Pancreas	Pancrea
3	chr7:102553600-102557800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr7:102553600-102559000	Weak transcription	Psoas Muscle	Psoas
5	chr7:102553800-102557400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:102553800-102557800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:102554800-102566200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:102555200-102559000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:102555400-102557800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:102555600-102559000	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:102555600-102566400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:102555600-102566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:102555800-102557600	Weak transcription	Fetal Kidney	kidney
14	chr7:102555800-102558000	Weak transcription	Right Atrium	heart
15	chr7:102555800-102559600	Enhancers	Fetal Stomach	stomach
16	chr7:102556400-102557800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:102556600-102557600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:102556800-102557400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr7:102556800-102557800	Enhancers	Hela-S3	cervix
20	chr7:102556800-102558000	Enhancers	HUVEC	blood vessel
21	chr7:102556800-102558000	Enhancers	NHEK	skin
22	chr7:102556800-102558200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:102556800-102558200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:102556800-102558200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr7:102556800-102558200	Enhancers	NHLF	lung
26	chr7:102556800-102558400	Enhancers	Aorta	Aorta
27	chr7:102556800-102558400	Enhancers	Osteobl	bone
28	chr7:102556800-102558600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:102556800-102559200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr7:102556800-102559200	Enhancers	NHDF-Ad	bronchial
31	chr7:102556800-102559400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:102556800-102559600	Strong transcription	K562	blood
33	chr7:102556800-102559800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr7:102556800-102559800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:102557000-102557400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr7:102557000-102557400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:102557000-102557400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:102557000-102557600	Enhancers	Fetal Lung	lung
39	chr7:102557000-102557600	Enhancers	HSMM	muscle
40	chr7:102557000-102557600	Enhancers	NH-A	brain
41	chr7:102557000-102557800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr7:102557000-102557800	Enhancers	HMEC	breast
43	chr7:102557000-102558000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:102557000-102558200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:102557000-102558400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:102557000-102558600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr7:102557200-102557600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:102557200-102557600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:102557200-102557800	Enhancers	HSMMtube	muscle
50	chr7:102557200-102558000	Enhancers	Ovary	ovary

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