Variant report

Variant	rs1994546
Chromosome Location	chr2:179688827-179688828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179670606..179674111-chr2:179686470..179689601,3	K562	blood:

Variant related genes	Relation type
ENSG00000155657	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12471428	0.85[YRI][hapmap]
rs2366912	0.81[AFR][1000 genomes]
rs7592323	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179659400-179698000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:179674400-179691000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:179683200-179689000	Weak transcription	Left Ventricle	heart
4	chr2:179685000-179689400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:179685000-179689600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:179685000-179689600	Weak transcription	Osteobl	bone
7	chr2:179685000-179692600	Weak transcription	Right Ventricle	heart
8	chr2:179685000-179693800	Weak transcription	HSMM	muscle
9	chr2:179685000-179694000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:179685200-179692000	Weak transcription	Primary T cells from cord blood	blood
11	chr2:179685200-179692200	Weak transcription	Aorta	Aorta
12	chr2:179685200-179692600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr2:179685200-179694000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:179685200-179694000	Weak transcription	HSMMtube	muscle
15	chr2:179685200-179698800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:179685600-179698200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:179685800-179689400	Weak transcription	HUVEC	blood vessel
18	chr2:179685800-179693400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:179685800-179698000	Weak transcription	Fetal Heart	heart
20	chr2:179688800-179689200	Enhancers	Skeletal Muscle Male	skeletal muscle

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