Variant report

Variant	rs66598678
Chromosome Location	chr2:20307178-20307179
allele	CT/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:20307134-20307201	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr2:20307140-20307290	WERI-Rb-1	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:20306634..20307462-chr2:20390804..20391353,2	MCF-7	breast:
2	chr2:20299695..20307724-chr2:20421846..20426859,15	MCF-7	breast:
3	chr2:20306020..20309024-chr2:20421635..20424090,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234378	TF binding region
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10208355	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11096639	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11685788	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13005386	0.82[EUR][1000 genomes]
rs13391566	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34367401	0.83[EUR][1000 genomes]
rs34481015	0.84[EUR][1000 genomes]
rs34694787	0.82[EUR][1000 genomes]
rs6531203	0.82[EUR][1000 genomes]
rs7561381	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7582437	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs907864	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20298400-20307800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:20304800-20308600	Weak transcription	Liver	Liver
3	chr2:20305200-20307200	Weak transcription	HepG2	liver
4	chr2:20305200-20308600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:20305800-20310200	Weak transcription	Gastric	stomach
6	chr2:20306000-20308600	Weak transcription	Stomach Mucosa	stomach
7	chr2:20306200-20307200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr2:20306200-20307400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:20306400-20307200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:20306600-20307600	Weak transcription	NHDF-Ad	bronchial
11	chr2:20306600-20318400	Enhancers	Placenta	Placenta
12	chr2:20306800-20307600	Enhancers	Fetal Lung	lung
13	chr2:20306800-20311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:20306800-20318200	Weak transcription	Right Ventricle	heart
15	chr2:20307000-20307200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:20307000-20307200	Enhancers	Fetal Intestine Large	intestine
17	chr2:20307000-20307400	Enhancers	Fetal Intestine Small	intestine
18	chr2:20307000-20307600	Enhancers	Fetal Kidney	kidney
19	chr2:20307000-20307600	Enhancers	NHEK	skin
20	chr2:20307000-20308000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:20307000-20308000	Enhancers	NHLF	lung
22	chr2:20307000-20308200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:20307000-20308600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:20307000-20309000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:20307000-20310200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:20307000-20310200	Enhancers	HMEC	breast
27	chr2:20307000-20311200	Weak transcription	Esophagus	oesophagus
28	chr2:20307000-20311200	Weak transcription	Pancreas	Pancrea

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