Variant report

Variant	rs72863582
Chromosome Location	chr2:30525441-30525442
allele	A/C
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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2202889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72863564	0.82[AFR][1000 genomes]
rs72863566	0.82[AFR][1000 genomes]
rs72863567	0.82[AFR][1000 genomes]
rs72863578	0.82[AFR][1000 genomes]
rs72863581	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72863585	1.00[AMR][1000 genomes]
rs72863591	1.00[AMR][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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30522600-30525600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr2:30522600-30525800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:30522800-30525800	Enhancers	NHLF	lung
4	chr2:30522800-30526000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:30522800-30526200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:30523000-30526000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:30523400-30525800	Enhancers	HSMMtube	muscle
8	chr2:30523400-30528000	Weak transcription	K562	blood
9	chr2:30523600-30526200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:30523600-30526600	Weak transcription	Aorta	Aorta
11	chr2:30524000-30526600	Enhancers	Fetal Heart	heart
12	chr2:30524000-30527800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:30524000-30527800	Weak transcription	Osteobl	bone
14	chr2:30524600-30525800	Weak transcription	Pancreas	Pancrea
15	chr2:30524600-30525800	Enhancers	A549	lung
16	chr2:30524600-30534200	Weak transcription	Esophagus	oesophagus
17	chr2:30524600-30537400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:30524800-30525800	Weak transcription	Left Ventricle	heart
19	chr2:30524800-30533800	Weak transcription	Spleen	Spleen
20	chr2:30525000-30525600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:30525000-30525800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr2:30525000-30525800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr2:30525000-30525800	Enhancers	Fetal Kidney	kidney
24	chr2:30525000-30526000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
25	chr2:30525000-30526600	Weak transcription	HSMM	muscle
26	chr2:30525000-30528200	Weak transcription	Stomach Mucosa	stomach
27	chr2:30525200-30525600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr2:30525200-30525600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
29	chr2:30525200-30527800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:30525200-30527800	Weak transcription	NH-A	brain
31	chr2:30525200-30532600	Weak transcription	Fetal Thymus	thymus
32	chr2:30525400-30526600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr2:30525400-30527800	Weak transcription	NHDF-Ad	bronchial
34	chr2:30525400-30528200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:30525400-30532600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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