Variant report

Variant	rs7598447
Chromosome Location	chr2:40587107-40587108
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	chr2:40586222..40589135-chr2:40597627..40599804,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4140917	1.00[MEX][hapmap]
rs6544320	1.00[MEX][hapmap]
rs673689	1.00[MEX][hapmap]
rs7571610	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
2	chr2:40574600-40590600	Weak transcription	Aorta	Aorta
3	chr2:40576800-40587600	Weak transcription	NH-A	brain
4	chr2:40580200-40587600	Weak transcription	NHLF	lung
5	chr2:40580600-40587600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:40580600-40587800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:40580600-40587800	Weak transcription	HMEC	breast
8	chr2:40581200-40587600	Weak transcription	HSMM	muscle
9	chr2:40581200-40590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr2:40581200-40591800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr2:40581600-40591600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:40583200-40587600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:40583200-40587600	Weak transcription	Hela-S3	cervix
14	chr2:40583400-40587600	Weak transcription	Right Atrium	heart
15	chr2:40584400-40587600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:40584400-40588800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:40584600-40587600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:40584800-40589000	Enhancers	Osteobl	bone
19	chr2:40585200-40590800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:40585600-40587600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:40586200-40590800	Weak transcription	Brain Anterior Caudate	brain
22	chr2:40586400-40592000	Weak transcription	Left Ventricle	heart
23	chr2:40586600-40588000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:40586800-40587600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:40586800-40587600	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:40586800-40593800	Enhancers	Fetal Heart	heart
27	chr2:40587000-40587400	Weak transcription	NHDF-Ad	bronchial
28	chr2:40587000-40587800	Weak transcription	Stomach Smooth Muscle	stomach

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