Variant report

Variant	rs7691521
Chromosome Location	chr4:79476421-79476422
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	chr4:79476370..79478643-chr4:79482902..79485016,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10213249	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650752	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1390738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496589	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496590	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496591	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496592	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1496593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1603462	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975147	0.95[CHD][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6533780	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672582	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7696371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7691521	CCNI	cis	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79473400-79481400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:79473400-79481400	Weak transcription	HSMM	muscle
3	chr4:79473400-79481600	Weak transcription	Gastric	stomach
4	chr4:79473400-79481600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:79473400-79485400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:79473600-79478200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:79473600-79479800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:79473600-79481400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:79473600-79481600	Weak transcription	Pancreas	Pancrea
10	chr4:79473600-79481800	Weak transcription	Small Intestine	intestine
11	chr4:79473600-79487200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:79473800-79481400	Weak transcription	Aorta	Aorta
13	chr4:79474000-79482200	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:79474400-79481400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:79474400-79481400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:79474400-79481800	Weak transcription	Esophagus	oesophagus
17	chr4:79474400-79486600	Weak transcription	Psoas Muscle	Psoas
18	chr4:79474400-79527200	Weak transcription	Spleen	Spleen
19	chr4:79474600-79480800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:79474600-79481400	Weak transcription	Fetal Stomach	stomach
21	chr4:79474600-79481800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:79474600-79482400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:79474600-79488200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:79474800-79481600	Weak transcription	K562	blood
25	chr4:79475000-79480800	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr4:79475000-79481400	Weak transcription	Fetal Heart	heart
27	chr4:79475000-79481600	Weak transcription	Placenta	Placenta
28	chr4:79475200-79478200	Weak transcription	Left Ventricle	heart
29	chr4:79475200-79479800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:79475200-79481600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr4:79475200-79481600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:79475200-79481600	Weak transcription	Lung	lung
33	chr4:79475400-79476600	Weak transcription	HUVEC	blood vessel
34	chr4:79475400-79476800	Strong transcription	A549	lung
35	chr4:79475400-79477800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:79475400-79479600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:79475400-79480000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:79475400-79480800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr4:79475400-79481200	Weak transcription	NH-A	brain
40	chr4:79475400-79481600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:79475600-79476800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:79475600-79477200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:79475600-79477600	Weak transcription	Stomach Mucosa	stomach
44	chr4:79475600-79478000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr4:79475600-79478000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:79475600-79478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:79475600-79478400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
48	chr4:79475600-79479400	Weak transcription	Fetal Lung	lung
49	chr4:79475600-79479600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr4:79475600-79479600	Weak transcription	NHLF	lung

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