Variant report

Variant	rs17050077
Chromosome Location	chr4:120014898-120014899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120001166..120004043-chr4:120014693..120016511,3	MCF-7	breast:
2	chr4:120014220..120018464-chr4:120020403..120024000,3	MCF-7	breast:
3	chr4:120013479..120014990-chr4:120129629..120131701,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11935300	0.94[ASN][1000 genomes]
rs11939080	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11939118	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11943226	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050083	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050152	1.00[TSI][hapmap]
rs28575871	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28578337	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4834744	0.81[AFR][1000 genomes]
rs6824074	0.82[AMR][1000 genomes]
rs6837925	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120009000-120017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:120009200-120019000	Weak transcription	Fetal Intestine Large	intestine
3	chr4:120013000-120015400	Enhancers	Stomach Mucosa	stomach
4	chr4:120013200-120015200	Enhancers	HepG2	liver
5	chr4:120014000-120015000	Enhancers	Pancreas	Pancrea
6	chr4:120014200-120015000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:120014200-120016000	Enhancers	HUVEC	blood vessel
8	chr4:120014400-120015000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:120014400-120015000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:120014400-120015000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:120014400-120015000	Enhancers	Colonic Mucosa	Colon
12	chr4:120014400-120015000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr4:120014400-120015000	Enhancers	HSMM	muscle
14	chr4:120014400-120015000	Enhancers	NH-A	brain
15	chr4:120014400-120015000	Enhancers	Osteobl	bone
16	chr4:120014400-120015200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:120014400-120015200	Flanking Active TSS	A549	lung
18	chr4:120014400-120015600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:120014600-120015000	Enhancers	Right Atrium	heart
20	chr4:120014600-120015400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:120014600-120015600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:120014600-120015600	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr4:120014600-120015800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:120014800-120015000	Enhancers	Left Ventricle	heart
25	chr4:120014800-120015000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:120014800-120019000	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:120014800-120022800	Weak transcription	NHEK	skin
28	chr4:120014800-120045000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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