Variant report

Variant	rs62139709
Chromosome Location	chr2:47627335-47627336
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	chr2:47624768..47627514-chr2:47632818..47635778,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62138458	0.88[AMR][1000 genomes]
rs62139664	0.88[AMR][1000 genomes]
rs62139669	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62139710	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 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	chr2:47597400-47629400	Weak transcription	NHEK	skin
2	chr2:47601200-47629400	Weak transcription	Stomach Mucosa	stomach
3	chr2:47604800-47628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:47605200-47629000	Weak transcription	Brain Germinal Matrix	brain
5	chr2:47608000-47629000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:47609800-47629200	Weak transcription	Fetal Stomach	stomach
7	chr2:47612000-47629000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:47614200-47628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:47615600-47629400	Weak transcription	Colonic Mucosa	Colon
10	chr2:47616800-47629200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:47617000-47629400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:47617200-47628800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:47617200-47629000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:47617400-47629600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:47619200-47629400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:47619400-47628800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:47619400-47629200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:47619400-47629400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr2:47619400-47629400	Weak transcription	Pancreas	Pancrea
20	chr2:47619400-47629400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:47619600-47629000	Weak transcription	Fetal Intestine Large	intestine
22	chr2:47620000-47629600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr2:47620400-47629200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:47626400-47629200	Weak transcription	HepG2	liver

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