Variant report

Variant	rs7670643
Chromosome Location	chr4:79489549-79489550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79474131..79475837-chr4:79488894..79491273,2	MCF-7	breast:
2	chr4:79488302..79490787-chr4:79493222..79497094,3	K562	blood:

Variant related genes	Relation type
ENSG00000138772	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17003190	1.00[AMR][1000 genomes]
rs17003217	1.00[AMR][1000 genomes]
rs17003229	1.00[AMR][1000 genomes]
rs17003249	1.00[AMR][1000 genomes]
rs17003255	1.00[AMR][1000 genomes]
rs17003269	1.00[AMR][1000 genomes]
rs17003281	1.00[AMR][1000 genomes]
rs17003344	1.00[AMR][1000 genomes]
rs1995061	1.00[AMR][1000 genomes]
rs34358235	1.00[AMR][1000 genomes]
rs6533643	1.00[AMR][1000 genomes]
rs6843017	1.00[AMR][1000 genomes]
rs6849354	1.00[AMR][1000 genomes]
rs7690611	1.00[AMR][1000 genomes]
rs7691528	1.00[AMR][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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
2	chr4:79478800-79489800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:79481800-79521000	Weak transcription	Right Ventricle	heart
4	chr4:79482400-79494800	Weak transcription	Left Ventricle	heart
5	chr4:79482600-79490600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:79482800-79490800	Weak transcription	Fetal Stomach	stomach
7	chr4:79482800-79505000	Weak transcription	Fetal Lung	lung
8	chr4:79483000-79489800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:79483000-79490600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:79483000-79490600	Weak transcription	Aorta	Aorta
11	chr4:79483000-79493200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr4:79483000-79530000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr4:79484000-79490000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:79485200-79490400	Enhancers	HSMMtube	muscle
15	chr4:79485200-79490600	Enhancers	HSMM	muscle
16	chr4:79485200-79490600	Genic enhancers	NHEK	skin
17	chr4:79485600-79490000	Enhancers	NH-A	brain
18	chr4:79485600-79490200	Enhancers	Hela-S3	cervix
19	chr4:79485600-79490600	Enhancers	Stomach Mucosa	stomach
20	chr4:79486200-79491200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr4:79486400-79491200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:79486400-79491400	Enhancers	Fetal Intestine Large	intestine
23	chr4:79486600-79490000	Enhancers	Right Atrium	heart
24	chr4:79486600-79491000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:79486600-79491200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:79486800-79489800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:79486800-79490200	Enhancers	HepG2	liver
28	chr4:79486800-79491000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:79486800-79491200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr4:79487000-79490600	Enhancers	Fetal Heart	heart
31	chr4:79487000-79491000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:79487400-79489600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:79487400-79489600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr4:79487400-79489600	Weak transcription	HUVEC	blood vessel
35	chr4:79487400-79490800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:79487400-79491000	Enhancers	Fetal Intestine Small	intestine
37	chr4:79487800-79489600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:79488000-79489800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:79488000-79489800	Enhancers	Duodenum Mucosa	Duodenum
40	chr4:79488000-79491000	Enhancers	Pancreas	Pancrea
41	chr4:79488000-79491600	Enhancers	Placenta Amnion	Placenta Amnion
42	chr4:79488200-79489600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr4:79488200-79489800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr4:79488200-79490000	Enhancers	Colon Smooth Muscle	Colon
45	chr4:79488200-79490400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:79488200-79491400	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr4:79488400-79489600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr4:79488400-79490600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:79488400-79491800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
50	chr4:79488400-79505800	Weak transcription	Lung	lung

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