Variant report

Variant	rs12476050
Chromosome Location	chr2:30525827-30525828
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	chr2:30453108..30455029-chr2:30524913..30528459,3	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10206415	1.00[CHB][hapmap]
rs11680075	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11681599	1.00[CHB][hapmap]
rs11684717	1.00[CHB][hapmap]
rs11694633	1.00[CHB][hapmap]
rs13003088	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13007792	1.00[CHB][hapmap]
rs13391413	0.92[ASN][1000 genomes]
rs17736058	1.00[CHB][hapmap]
rs17792620	1.00[CHB][hapmap]
rs6708166	1.00[CHB][hapmap]
rs6755863	1.00[CHB][hapmap]
rs906864	1.00[CHB][hapmap]
rs906869	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv2663	chr2:30522750-30567544	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30522800-30526000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:30522800-30526200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:30523000-30526000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:30523400-30528000	Weak transcription	K562	blood
5	chr2:30523600-30526200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:30523600-30526600	Weak transcription	Aorta	Aorta
7	chr2:30524000-30526600	Enhancers	Fetal Heart	heart
8	chr2:30524000-30527800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:30524000-30527800	Weak transcription	Osteobl	bone
10	chr2:30524600-30534200	Weak transcription	Esophagus	oesophagus
11	chr2:30524600-30537400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:30524800-30533800	Weak transcription	Spleen	Spleen
13	chr2:30525000-30526000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
14	chr2:30525000-30526600	Weak transcription	HSMM	muscle
15	chr2:30525000-30528200	Weak transcription	Stomach Mucosa	stomach
16	chr2:30525200-30527800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:30525200-30527800	Weak transcription	NH-A	brain
18	chr2:30525200-30532600	Weak transcription	Fetal Thymus	thymus
19	chr2:30525400-30526600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:30525400-30527800	Weak transcription	NHDF-Ad	bronchial
21	chr2:30525400-30528200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:30525400-30532600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:30525600-30526000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr2:30525600-30526200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
25	chr2:30525600-30526200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
26	chr2:30525800-30526000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr2:30525800-30526200	Enhancers	Left Ventricle	heart
28	chr2:30525800-30526200	Enhancers	Pancreas	Pancrea
29	chr2:30525800-30528400	Weak transcription	A549	lung
30	chr2:30525800-30528400	Weak transcription	NHLF	lung

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