Variant report

Variant	rs571811628
Chromosome Location	chr20:1166142-1166143
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	YY1	chr20:1165360-1166207	HepG2	liver:	n/a	chr20:1165723-1165732 chr20:1166168-1166179
2	ZBTB7A	chr20:1165453-1166680	K562	blood:	n/a	n/a
3	MAX	chr20:1165545-1166240	ECC-1	luminal epithelium:	n/a	n/a
4	HMGN3	chr20:1165229-1166320	K562	blood:	n/a	n/a
5	UBTF	chr20:1165349-1166318	K562	blood:	n/a	n/a
6	MAX	chr20:1165038-1167857	HepG2	liver:	n/a	chr20:1165200-1165208
7	MAX	chr20:1165309-1166410	A549	lung:	n/a	n/a
8	CTCF	chr20:1166101-1167263	A549	lung:	n/a	chr20:1166567-1166585 chr20:1166162-1166175
9	POLR2A	chr20:1165285-1166867	K562	blood:	n/a	n/a
10	UBTF	chr20:1165297-1166787	K562	blood:	n/a	n/a
11	MAX	chr20:1165133-1166220	HepG2	liver:	n/a	chr20:1165200-1165208
12	ZBTB7A	chr20:1166055-1166819	ECC-1	luminal epithelium:	n/a	n/a
13	E2F6	chr20:1165184-1166283	K562	blood:	n/a	chr20:1165723-1165732 chr20:1165552-1165561 chr20:1165745-1165755 chr20:1165720-1165732
14	POLR2A	chr20:1166105-1166309	HCT-116	colon:	n/a	n/a
15	CCNT2	chr20:1165384-1166670	K562	blood:	n/a	chr20:1166606-1166615 chr20:1165723-1165732 chr20:1166265-1166274
16	MAZ	chr20:1166114-1167582	HepG2	liver:	n/a	n/a
17	MAZ	chr20:1165255-1167048	K562	blood:	n/a	n/a
18	ZBTB7A	chr20:1165544-1166892	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
TMEM74B	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1164800-1166800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr20:1165000-1166200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
3	chr20:1165000-1166200	Active TSS	Brain Anterior Caudate	brain
4	chr20:1165000-1166800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr20:1165000-1166800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr20:1165000-1166800	Bivalent/Poised TSS	Fetal Brain Female	brain
7	chr20:1165000-1167000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr20:1165200-1166400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
9	chr20:1165200-1166600	Active TSS	Left Ventricle	heart
10	chr20:1165200-1166600	Active TSS	Right Atrium	heart
11	chr20:1165200-1166600	Active TSS	K562	blood
12	chr20:1165200-1166800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr20:1165200-1166800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr20:1165400-1166200	Bivalent Enhancer	Spleen	Spleen
15	chr20:1165400-1166400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr20:1165400-1166400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr20:1165400-1166400	Bivalent/Poised TSS	HMEC	breast
18	chr20:1165400-1166600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:1165400-1166600	Active TSS	A549	lung
20	chr20:1165400-1166800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
21	chr20:1165600-1166200	Bivalent/Poised TSS	Esophagus	oesophagus
22	chr20:1165600-1166200	Bivalent/Poised TSS	HUVEC	blood vessel
23	chr20:1165600-1166400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr20:1165600-1166400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
25	chr20:1165600-1166400	Enhancers	Primary B cells from cord blood	blood
26	chr20:1165600-1166400	Active TSS	Brain Cingulate Gyrus	brain
27	chr20:1165600-1166400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
28	chr20:1165600-1166400	Bivalent/Poised TSS	Colonic Mucosa	Colon
29	chr20:1165600-1166400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
30	chr20:1165600-1166400	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr20:1165600-1166400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
32	chr20:1165600-1166600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr20:1165600-1166600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr20:1165600-1166600	Active TSS	Liver	Liver
35	chr20:1165600-1166600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr20:1165600-1166600	Active TSS	Duodenum Mucosa	Duodenum
37	chr20:1165600-1166600	Active TSS	Fetal Intestine Large	intestine
38	chr20:1165600-1166600	Active TSS	Fetal Intestine Small	intestine
39	chr20:1165600-1166600	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr20:1165600-1166600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
41	chr20:1165600-1166600	Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr20:1165600-1166600	Active TSS	Small Intestine	intestine
43	chr20:1165600-1166600	Bivalent/Poised TSS	HepG2	liver
44	chr20:1165600-1166600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
45	chr20:1165600-1166800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
46	chr20:1165600-1166800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr20:1165600-1166800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr20:1165600-1166800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr20:1165600-1166800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr20:1165600-1166800	Active TSS	Brain Inferior Temporal Lobe	brain

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