Variant report

Variant	rs562423777
Chromosome Location	chr20:1167190-1167191
allele	A/G
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	chr20:1167080-1167230	HVMF	connective:	n/a	n/a
2	MAX	chr20:1165038-1167857	HepG2	liver:	n/a	chr20:1165200-1165208
3	MAX	chr20:1166992-1167516	HepG2	liver:	n/a	n/a
4	CTCF	chr20:1166101-1167263	A549	lung:	n/a	chr20:1166567-1166585 chr20:1166162-1166175
5	JUND	chr20:1167132-1167324	H1-hESC	embryonic stem cell:	n/a	n/a
6	RCOR1	chr20:1166531-1167462	HepG2	liver:	n/a	n/a
7	CHD2	chr20:1167070-1167706	HepG2	liver:	n/a	n/a
8	ZNF263	chr20:1166478-1167208	HEK293-T-REx	kidney:	n/a	n/a
9	CTCF	chr20:1166960-1167350	HepG2	liver:	n/a	n/a
10	RFX5	chr20:1166688-1167480	HepG2	liver:	n/a	n/a
11	MAZ	chr20:1166114-1167582	HepG2	liver:	n/a	n/a
12	POLR2A	chr20:1166532-1168701	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1166329..1168074-chr20:1189249..1191383,2	K562	blood:

Variant related genes	Relation type
TMEM74B	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531450	chr20:809607-1221836	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1058524	chr20:821434-1254865	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv544138	chr20:821434-1254865	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057939	chr20:824980-1316778	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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 target site	34 gene(s)	inside rSNPs	diseases
5	nsv912585	chr20:992713-1210647	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1057097	chr20:1030940-1314265	Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	esv3437185	chr20:1164977-1167825	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3448468	chr20:1165152-1167550	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv3370554	chr20:1165752-1167250	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3372799	chr20:1167052-1171250	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1166000-1169000	Weak transcription	Gastric	stomach
2	chr20:1166200-1167400	Bivalent Enhancer	Placenta	Placenta
3	chr20:1166400-1167200	Weak transcription	Esophagus	oesophagus
4	chr20:1166400-1167400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:1166400-1167800	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr20:1166400-1168400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr20:1166400-1169000	Weak transcription	Pancreas	Pancrea
8	chr20:1166400-1169000	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr20:1166400-1169400	Enhancers	Lung	lung
10	chr20:1166600-1167200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr20:1166600-1167200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
12	chr20:1166600-1167400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr20:1166600-1167400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr20:1166600-1167400	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr20:1166600-1168200	Weak transcription	Left Ventricle	heart
16	chr20:1166600-1168200	Enhancers	Small Intestine	intestine
17	chr20:1166600-1169200	Enhancers	Right Atrium	heart
18	chr20:1166800-1167200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr20:1166800-1167200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
20	chr20:1166800-1167200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr20:1166800-1167200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr20:1166800-1167400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr20:1166800-1167400	Bivalent Enhancer	Fetal Lung	lung
24	chr20:1166800-1167400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr20:1166800-1167400	Enhancers	Spleen	Spleen
26	chr20:1166800-1167600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr20:1166800-1167600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr20:1166800-1167800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr20:1166800-1167800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr20:1166800-1168000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr20:1166800-1168600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr20:1166800-1169400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr20:1166800-1169400	Enhancers	Liver	Liver
34	chr20:1166800-1169400	Enhancers	Fetal Intestine Small	intestine
35	chr20:1167000-1167200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
36	chr20:1167000-1167200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
37	chr20:1167000-1167400	Weak transcription	Right Ventricle	heart
38	chr20:1167000-1167800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr20:1167000-1167800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr20:1167000-1167800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr20:1167000-1167800	Enhancers	K562	blood
42	chr20:1167000-1168200	Enhancers	A549	lung
43	chr20:1167000-1168200	Weak transcription	Hela-S3	cervix
44	chr20:1167000-1168600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
45	chr20:1167000-1168600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
46	chr20:1167000-1169200	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr20:1167000-1169400	Enhancers	Duodenum Mucosa	Duodenum
48	chr20:1167000-1169400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr20:1167000-1169400	Enhancers	Fetal Intestine Large	intestine
50	chr20:1167000-1169400	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links