Variant report

Variant	rs931602
Chromosome Location	chr4:79485876-79485877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:79480977..79482887-chr4:79485454..79487082,2	MCF-7	breast:
2	chr4:78783792..78785533-chr4:79484545..79487269,2	MCF-7	breast:
3	chr4:79481834..79484233-chr4:79484393..79486934,3	K562	blood:
4	chr4:79481834..79483638-chr4:79484393..79486934,2	K562	blood:

Variant related genes	Relation type
ENSG00000169288	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1390738	0.82[ASW][hapmap]
rs1546176	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546178	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975071	1.00[ASW][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.89[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79473600-79487200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:79474400-79486600	Weak transcription	Psoas Muscle	Psoas
3	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
4	chr4:79474600-79488200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:79476800-79486600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:79478800-79489800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:79481800-79521000	Weak transcription	Right Ventricle	heart
8	chr4:79482400-79486400	Weak transcription	Lung	lung
9	chr4:79482400-79494800	Weak transcription	Left Ventricle	heart
10	chr4:79482600-79487200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:79482600-79487200	Weak transcription	Placenta	Placenta
12	chr4:79482600-79488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:79482600-79490600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:79482800-79486600	Weak transcription	Right Atrium	heart
15	chr4:79482800-79486800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:79482800-79488000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:79482800-79490800	Weak transcription	Fetal Stomach	stomach
18	chr4:79482800-79505000	Weak transcription	Fetal Lung	lung
19	chr4:79483000-79486200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:79483000-79486600	Weak transcription	Esophagus	oesophagus
21	chr4:79483000-79486800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:79483000-79487000	Weak transcription	Fetal Heart	heart
23	chr4:79483000-79487000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:79483000-79488000	Weak transcription	Pancreas	Pancrea
25	chr4:79483000-79489800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr4:79483000-79490600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:79483000-79490600	Weak transcription	Aorta	Aorta
28	chr4:79483000-79493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:79483000-79530000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:79483200-79486800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:79483400-79486800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:79483400-79486800	Weak transcription	HepG2	liver
33	chr4:79483400-79487000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr4:79483600-79486600	Weak transcription	NHLF	lung
35	chr4:79483600-79486800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr4:79483600-79486800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:79483600-79487000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:79483600-79488000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:79483800-79487000	Weak transcription	NHDF-Ad	bronchial
40	chr4:79484000-79488200	Weak transcription	Colon Smooth Muscle	Colon
41	chr4:79484000-79490000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:79484200-79486800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:79484400-79486800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:79484400-79486800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr4:79484600-79486000	Genic enhancers	HMEC	breast
46	chr4:79484600-79486600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr4:79484600-79486800	Weak transcription	Gastric	stomach
48	chr4:79484600-79487000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr4:79484600-79488000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:79484800-79487200	Weak transcription	H1 Cell Line	embryonic stem cell

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