Variant report

Variant	rs6749904
Chromosome Location	chr2:67873656-67873657
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67871857..67874448-chr2:67877443..67879298,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1367473	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430779	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1430780	0.90[ASN][1000 genomes]
rs1430781	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430782	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1541864	0.80[AFR][1000 genomes]
rs6737368	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs891533	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9712235	0.83[AMR][1000 genomes];0.97[EUR][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	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv1007345	chr2:67870225-67980094	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67866800-67884200	Weak transcription	Aorta	Aorta
2	chr2:67871600-67873800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:67872400-67873800	Enhancers	HSMM	muscle
4	chr2:67872400-67876200	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:67872600-67874000	Enhancers	Stomach Smooth Muscle	stomach
6	chr2:67872800-67873800	Weak transcription	Stomach Mucosa	stomach
7	chr2:67872800-67874000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:67872800-67875600	Weak transcription	Fetal Lung	lung
9	chr2:67872800-67876800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:67873000-67873800	Weak transcription	Hela-S3	cervix
11	chr2:67873000-67873800	Enhancers	HSMMtube	muscle
12	chr2:67873200-67874400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr2:67873200-67876400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:67873200-67877000	Weak transcription	Gastric	stomach
15	chr2:67873400-67873800	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:67873400-67873800	Enhancers	Right Ventricle	heart
17	chr2:67873400-67874000	Enhancers	Left Ventricle	heart
18	chr2:67873400-67874000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:67873600-67873800	Flanking Active TSS	Fetal Heart	heart
20	chr2:67873600-67873800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr2:67873600-67874000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:67873600-67874200	ZNF genes & repeats	Right Atrium	heart
23	chr2:67873600-67874400	ZNF genes & repeats	Pancreas	Pancrea
24	chr2:67873600-67877000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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