Variant report

Variant	rs1709123
Chromosome Location	chr19:41666372-41666373
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41664966..41667782-chr19:41768471..41770752,2	K562	blood:

Variant related genes	Relation type
ENSG00000105323	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10412210	0.81[ASN][1000 genomes]
rs10424975	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11667708	0.81[ASN][1000 genomes]
rs1645683	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1645684	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs305960	0.96[ASN][1000 genomes]
rs305962	0.90[ASN][1000 genomes]
rs4802109	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	esv3391909	chr19:41632754-41688263	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv911767	chr19:41649516-41716271	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41662600-41678200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:41663400-41668000	Enhancers	Fetal Intestine Large	intestine
3	chr19:41663800-41666600	Enhancers	Fetal Intestine Small	intestine
4	chr19:41664200-41675600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:41664600-41666600	Enhancers	Stomach Mucosa	stomach
6	chr19:41665000-41666400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr19:41665200-41671200	Weak transcription	Gastric	stomach
8	chr19:41665400-41666400	Enhancers	A549	lung
9	chr19:41665400-41666400	Enhancers	K562	blood
10	chr19:41665400-41666600	Enhancers	HepG2	liver
11	chr19:41665400-41672800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:41665400-41673000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:41665400-41678200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr19:41665400-41678400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr19:41665400-41678400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr19:41665400-41678600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr19:41665800-41666400	Enhancers	Duodenum Mucosa	Duodenum
18	chr19:41665800-41679000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:41666000-41671400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr19:41666000-41681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr19:41666200-41666400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:41666200-41666400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr19:41666200-41666400	Enhancers	Hela-S3	cervix

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