Variant report

Variant	rs567845895
Chromosome Location	chr20:1166691-1166692
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	JUND	chr20:1166483-1166782	A549	lung:	n/a	n/a
2	MAX	chr20:1166459-1166701	K562	blood:	n/a	n/a
3	CTCF	chr20:1166466-1166742	SK-N-SH_RA	brain:	n/a	chr20:1166567-1166585
4	CHD2	chr20:1166473-1166742	HepG2	liver:	n/a	n/a
5	CTCF	chr20:1166458-1166719	MCF-7	breast:	n/a	chr20:1166567-1166585
6	JUND	chr20:1166452-1166796	K562	blood:	n/a	n/a
7	CTCF	chr20:1166453-1166734	K562	blood:	n/a	chr20:1166567-1166585
8	RAD21	chr20:1166451-1166721	MCF-7	breast:	n/a	chr20:1166573-1166586 chr20:1166565-1166584 chr20:1166485-1166494
9	EP300	chr20:1166522-1166788	HepG2	liver:	n/a	n/a
10	RAD21	chr20:1166386-1166759	H1-hESC	embryonic stem cell:	n/a	chr20:1166573-1166586 chr20:1166565-1166584 chr20:1166485-1166494
11	RAD21	chr20:1166457-1166711	SK-N-SH_RA	brain:	n/a	chr20:1166573-1166586 chr20:1166565-1166584 chr20:1166485-1166494
12	TCF12	chr20:1166395-1166838	A549	lung:	n/a	n/a
13	RAD21	chr20:1166310-1166794	H1-hESC	embryonic stem cell:	n/a	chr20:1166573-1166586 chr20:1166565-1166584 chr20:1166485-1166494
14	CTCF	chr20:1166458-1166726	NHEK	skin:	n/a	chr20:1166567-1166585
15	SMC3	chr20:1166498-1167049	HepG2	liver:	n/a	n/a
16	HCFC1	chr20:1166513-1166712	K562	blood:	n/a	n/a
17	ARID3A	chr20:1166469-1166713	K562	blood:	n/a	n/a
18	CHD2	chr20:1166464-1166869	K562	blood:	n/a	n/a
19	CTCF	chr20:1166455-1166758	H1-hESC	embryonic stem cell:	n/a	chr20:1166567-1166585
20	POLR2A	chr20:1166292-1166756	H1-neurons	neurons:	n/a	n/a
21	ZBTB7A	chr20:1166234-1166711	HepG2	liver:	n/a	n/a
22	ZNF143	chr20:1166433-1166752	H1-hESC	embryonic stem cell:	n/a	n/a
23	RCOR1	chr20:1166148-1166821	K562	blood:	n/a	n/a
24	ZNF384	chr20:1166402-1166959	K562	blood:	n/a	n/a
25	RAD21	chr20:1166446-1166743	IMR90	lung:	n/a	chr20:1166573-1166586 chr20:1166565-1166584 chr20:1166485-1166494
26	RAD21	chr20:1166358-1166774	HepG2	liver:	n/a	chr20:1166573-1166586 chr20:1166565-1166584 chr20:1166485-1166494
27	MAX	chr20:1165038-1167857	HepG2	liver:	n/a	chr20:1165200-1165208
28	CTCF	chr20:1166478-1166705	LNCaP	prostate:	n/a	chr20:1166567-1166585
29	CTCF	chr20:1166560-1166710	HAc	cerebellar:	n/a	chr20:1166567-1166585
30	POLR2A	chr20:1166352-1166781	H1-neurons	neurons:	n/a	n/a
31	CTCF	chr20:1166101-1167263	A549	lung:	n/a	chr20:1166567-1166585 chr20:1166162-1166175
32	GTF2F1	chr20:1166506-1166706	K562	blood:	n/a	n/a
33	CTCF	chr20:1166464-1166705	Pancreas_OC	pancreas:	n/a	chr20:1166567-1166585
34	ZNF143	chr20:1166439-1166730	GM12878	blood:	n/a	n/a
35	CTCF	chr20:1166355-1166907	HCT-116	colon:	n/a	chr20:1166567-1166585
36	REST	chr20:1166450-1166729	ECC-1	luminal epithelium:	n/a	chr20:1166507-1166520 chr20:1166504-1166524 chr20:1166504-1166524 chr20:1166504-1166517
37	CTCF	chr20:1166560-1166710	HFF-Myc	foreskin:	n/a	chr20:1166567-1166585
38	POLR2A	chr20:1165285-1166867	K562	blood:	n/a	n/a
39	TBL1XR1	chr20:1166478-1166718	K562	blood:	n/a	n/a
40	ARID3A	chr20:1166535-1166710	HepG2	liver:	n/a	n/a
41	UBTF	chr20:1165297-1166787	K562	blood:	n/a	n/a
42	CTCF	chr20:1166465-1166713	MCF-7	breast:	n/a	chr20:1166567-1166585
43	CREB1	chr20:1166460-1166733	A549	lung:	n/a	n/a
44	RAD21	chr20:1166404-1166809	HepG2	liver:	n/a	chr20:1166573-1166586 chr20:1166565-1166584 chr20:1166485-1166494
45	CTCF	chr20:1166407-1166779	K562	blood:	n/a	chr20:1166567-1166585
46	CTCF	chr20:1166600-1166750	HMEC	breast:	n/a	n/a
47	CTCF	chr20:1166465-1166723	K562	blood:	n/a	chr20:1166567-1166585
48	CTCF	chr20:1166459-1166716	MCF-7	breast:	n/a	chr20:1166567-1166585
49	RCOR1	chr20:1166531-1167462	HepG2	liver:	n/a	n/a
50	ZBTB7A	chr20:1166055-1166819	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1166329..1168074-chr20:1189249..1191383,2	K562	blood:
2	chr20:796367..797247-chr20:1166167..1167087,2	K562	blood:

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:83 , 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	chr20:1165000-1166800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:1165000-1166800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr20:1165000-1166800	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr20:1165000-1167000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr20:1165200-1166800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr20:1165200-1166800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr20:1165400-1166800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr20:1165600-1166800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
10	chr20:1165600-1166800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr20:1165600-1166800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr20:1165600-1166800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr20:1165600-1166800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr20:1165600-1166800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr20:1165600-1166800	Bivalent/Poised TSS	Thymus	Thymus
16	chr20:1165800-1166800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:1166000-1169000	Weak transcription	Gastric	stomach
18	chr20:1166200-1167000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr20:1166200-1167400	Bivalent Enhancer	Placenta	Placenta
20	chr20:1166400-1166800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr20:1166400-1166800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr20:1166400-1166800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr20:1166400-1166800	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr20:1166400-1166800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
25	chr20:1166400-1166800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
26	chr20:1166400-1166800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr20:1166400-1166800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
28	chr20:1166400-1166800	Bivalent Enhancer	Colonic Mucosa	Colon
29	chr20:1166400-1166800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
30	chr20:1166400-1166800	Bivalent Enhancer	HUVEC	blood vessel
31	chr20:1166400-1167000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr20:1166400-1167000	Bivalent Enhancer	Brain Germinal Matrix	brain
33	chr20:1166400-1167000	Bivalent Enhancer	Fetal Stomach	stomach
34	chr20:1166400-1167000	Bivalent Enhancer	Stomach Mucosa	stomach
35	chr20:1166400-1167200	Weak transcription	Esophagus	oesophagus
36	chr20:1166400-1167400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr20:1166400-1167800	Bivalent Enhancer	Fetal Muscle Leg	muscle
38	chr20:1166400-1168400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr20:1166400-1169000	Weak transcription	Pancreas	Pancrea
40	chr20:1166400-1169000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr20:1166400-1169400	Enhancers	Lung	lung
42	chr20:1166600-1166800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr20:1166600-1166800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
44	chr20:1166600-1166800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr20:1166600-1166800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr20:1166600-1166800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
47	chr20:1166600-1166800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr20:1166600-1166800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr20:1166600-1166800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr20:1166600-1166800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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