Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr12:104067736-104068141	K562	blood:	n/a	n/a
2	NR2F2	chr12:104067801-104068112	K562	blood:	n/a	n/a
3	FOSL2	chr12:104067731-104068029	HepG2	liver:	n/a	chr12:104067896-104067908 chr12:104067897-104067907 chr12:104067898-104067906 chr12:104067898-104067906 chr12:104067894-104067905 chr12:104067899-104067906

Variant related genes	Relation type
ENSG00000257766	TF binding region

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10778275	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10778276	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10778277	0.91[CHB][hapmap]
rs10861073	0.81[EUR][1000 genomes]
rs10861074	0.81[EUR][1000 genomes]
rs11111710	0.80[EUR][1000 genomes]
rs1593809	0.81[EUR][1000 genomes]
rs696214	0.91[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap]
rs697204	0.91[CHB][hapmap];0.80[CHD][hapmap];0.98[GIH][hapmap]
rs697206	0.91[CHB][hapmap]
rs697207	0.90[CHB][hapmap]
rs7296691	0.84[GIH][hapmap]
rs7312283	0.86[GIH][hapmap]

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	nsv865	chr12:104030102-104074864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv560038	chr12:104053420-104092996	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:104064000-104072000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:104064400-104071000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:104064600-104071200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:104064800-104070200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:104064800-104070400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:104065800-104068800	Enhancers	Fetal Intestine Small	intestine
7	chr12:104065800-104075200	Enhancers	Fetal Intestine Large	intestine
8	chr12:104066000-104068000	Enhancers	Gastric	stomach
9	chr12:104066200-104068000	Enhancers	Pancreas	Pancrea
10	chr12:104066200-104068200	Enhancers	Stomach Mucosa	stomach
11	chr12:104066600-104070400	Weak transcription	Colonic Mucosa	Colon
12	chr12:104066800-104074600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:104067000-104068200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr12:104067000-104068800	Enhancers	HepG2	liver
15	chr12:104067200-104068400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr12:104067400-104068400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:104067600-104068000	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr12:104067800-104068000	Genic enhancers	Spleen	Spleen
19	chr12:104067800-104068200	Enhancers	A549	lung
20	chr12:104067800-104071200	Weak transcription	HMEC	breast

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