Variant report

Variant	rs4725999
Chromosome Location	chr7:150844687-150844688
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:150833743..150841006-chr7:150841442..150846687,15	K562	blood:

Variant related genes	Relation type
ENSG00000133612	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1001760	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10230113	0.81[CHB][hapmap];0.83[CHD][hapmap];0.88[ASN][1000 genomes]
rs1430622	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1430624	0.89[ASN][1000 genomes]
rs310592	0.88[ASN][1000 genomes]
rs310599	0.83[ASN][1000 genomes]
rs4725394	0.81[CEU][hapmap]
rs6464132	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6947988	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6979015	0.81[CEU][hapmap]
rs768403	0.93[CHD][hapmap];0.83[GIH][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs7792368	0.96[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
4	nsv889478	chr7:150732812-150889527	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
5	nsv831188	chr7:150735204-150912875	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv889482	chr7:150766799-150851566	Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
7	nsv889486	chr7:150775306-150891641	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
8	nsv609034	chr7:150830015-150893629	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4725999	ACCN3	cis	cerebellum	SCAN
rs4725999	GIMAP2	cis	cerebellum	SCAN
rs4725999	TMEM176B	cis	cerebellum	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150829600-150845400	Weak transcription	NHDF-Ad	bronchial
2	chr7:150833000-150845400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:150833400-150845200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:150834000-150844800	Weak transcription	NH-A	brain
5	chr7:150834000-150847200	Weak transcription	Hela-S3	cervix
6	chr7:150836000-150848200	Weak transcription	Right Atrium	heart
7	chr7:150841200-150844800	Weak transcription	Fetal Brain Male	brain
8	chr7:150841400-150844800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:150841400-150845400	Weak transcription	A549	lung
10	chr7:150841400-150845600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:150841400-150846000	Weak transcription	HSMMtube	muscle
12	chr7:150841400-150862800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr7:150841600-150845000	Weak transcription	Primary T cells from cord blood	blood
14	chr7:150841600-150845000	Weak transcription	K562	blood
15	chr7:150841600-150845800	Weak transcription	HUVEC	blood vessel
16	chr7:150841600-150846000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr7:150841600-150847000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:150841800-150844800	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr7:150841800-150845200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:150841800-150845600	Weak transcription	Lung	lung
21	chr7:150841800-150845800	Weak transcription	Spleen	Spleen
22	chr7:150841800-150847000	Weak transcription	Esophagus	oesophagus
23	chr7:150841800-150847600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:150842000-150845000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:150842400-150844800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:150842400-150845200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:150842400-150845400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:150842400-150845800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:150842400-150845800	Weak transcription	Aorta	Aorta
30	chr7:150842400-150845800	Weak transcription	Ovary	ovary
31	chr7:150842400-150845800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:150842400-150846800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr7:150842400-150852000	Weak transcription	Pancreas	Pancrea
34	chr7:150842400-150859200	Weak transcription	Left Ventricle	heart
35	chr7:150842600-150844800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:150842600-150845000	Weak transcription	NHEK	skin
37	chr7:150842600-150845200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:150842600-150845200	Weak transcription	Fetal Intestine Small	intestine
39	chr7:150842600-150845400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:150842600-150845400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:150842600-150845400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:150842600-150845400	Weak transcription	Fetal Intestine Large	intestine
43	chr7:150842600-150845600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:150842600-150845600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:150842600-150845600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:150842600-150845600	Weak transcription	Colonic Mucosa	Colon
47	chr7:150842600-150845800	Weak transcription	Liver	Liver
48	chr7:150842600-150846000	Weak transcription	Adipose Nuclei	Adipose
49	chr7:150842600-150846600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:150842600-150847600	Weak transcription	Right Ventricle	heart

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