Variant report

Variant	rs576896003
Chromosome Location	chr20:1167673-1167674
allele	C/T
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	GATA1	chr20:1167588-1169589	K562	blood:	n/a	n/a
2	MAX	chr20:1165038-1167857	HepG2	liver:	n/a	chr20:1165200-1165208
3	TCF7L2	chr20:1167252-1167690	HCT-116	colon:	n/a	chr20:1167481-1167491 chr20:1167479-1167495 chr20:1167479-1167495 chr20:1167484-1167491 chr20:1167483-1167492 chr20:1167482-1167491 chr20:1167480-1167494
4	CHD2	chr20:1167070-1167706	HepG2	liver:	n/a	n/a
5	EP300	chr20:1167541-1167741	HepG2	liver:	n/a	n/a
6	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: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 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	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1166000-1169000	Weak transcription	Gastric	stomach
2	chr20:1166400-1167800	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr20:1166400-1168400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr20:1166400-1169000	Weak transcription	Pancreas	Pancrea
5	chr20:1166400-1169000	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr20:1166400-1169400	Enhancers	Lung	lung
7	chr20:1166600-1168200	Weak transcription	Left Ventricle	heart
8	chr20:1166600-1168200	Enhancers	Small Intestine	intestine
9	chr20:1166600-1169200	Enhancers	Right Atrium	heart
10	chr20:1166800-1167800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:1166800-1167800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
12	chr20:1166800-1168000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr20:1166800-1168600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr20:1166800-1169400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:1166800-1169400	Enhancers	Liver	Liver
16	chr20:1166800-1169400	Enhancers	Fetal Intestine Small	intestine
17	chr20:1167000-1167800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr20:1167000-1167800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:1167000-1167800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
20	chr20:1167000-1167800	Enhancers	K562	blood
21	chr20:1167000-1168200	Enhancers	A549	lung
22	chr20:1167000-1168200	Weak transcription	Hela-S3	cervix
23	chr20:1167000-1168600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr20:1167000-1168600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
25	chr20:1167000-1169200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr20:1167000-1169400	Enhancers	Duodenum Mucosa	Duodenum
27	chr20:1167000-1169400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr20:1167000-1169400	Enhancers	Fetal Intestine Large	intestine
29	chr20:1167000-1169400	Enhancers	Stomach Mucosa	stomach
30	chr20:1167200-1168200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr20:1167200-1169000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr20:1167400-1167800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr20:1167400-1168200	Weak transcription	Spleen	Spleen
34	chr20:1167400-1168600	Flanking Active TSS	HepG2	liver
35	chr20:1167400-1168800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr20:1167400-1169000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr20:1167400-1169000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr20:1167400-1169000	Enhancers	Fetal Lung	lung
39	chr20:1167400-1169200	Enhancers	Placenta	Placenta
40	chr20:1167600-1168600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr20:1167600-1169000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr20:1167600-1169000	Weak transcription	Right Ventricle	heart

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