Variant report

Variant	rs571736537
Chromosome Location	chr20:1165354-1165355
allele	C/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	POLR2A	chr20:1165010-1166108	H1-neurons	neurons:	n/a	n/a
2	HMGN3	chr20:1165229-1166320	K562	blood:	n/a	n/a
3	UBTF	chr20:1165349-1166318	K562	blood:	n/a	n/a
4	MAX	chr20:1165038-1167857	HepG2	liver:	n/a	chr20:1165200-1165208
5	BACH1	chr20:1165128-1165647	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr20:1165309-1166410	A549	lung:	n/a	n/a
7	BHLHE40	chr20:1165353-1165553	K562	blood:	n/a	chr20:1165393-1165409
8	POLR2A	chr20:1165123-1165903	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr20:1165285-1166867	K562	blood:	n/a	n/a
10	UBTF	chr20:1165297-1166787	K562	blood:	n/a	n/a
11	POLR2A	chr20:1164896-1165638	HepG2	liver:	n/a	n/a
12	MAX	chr20:1165133-1166220	HepG2	liver:	n/a	chr20:1165200-1165208
13	MAX	chr20:1165303-1166038	H1-hESC	embryonic stem cell:	n/a	n/a
14	E2F6	chr20:1165184-1166283	K562	blood:	n/a	chr20:1165723-1165732 chr20:1165552-1165561 chr20:1165745-1165755 chr20:1165720-1165732
15	MYC	chr20:1165328-1165755	K562	blood:	n/a	n/a
16	HDAC2	chr20:1165281-1165509	K562	blood:	n/a	n/a
17	MYC	chr20:1165288-1165931	K562	blood:	n/a	n/a
18	MAX	chr20:1165241-1166093	K562	blood:	n/a	n/a
19	ELF1	chr20:1165348-1165718	GM12878	blood:	n/a	chr20:1165639-1165651
20	MAZ	chr20:1165255-1167048	K562	blood:	n/a	n/a
21	MXI1	chr20:1165162-1165362	K562	blood:	n/a	n/a
22	MAX	chr20:1165288-1165979	H1-hESC	embryonic stem cell:	n/a	n/a

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	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

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1153800-1165400	Weak transcription	A549	lung
2	chr20:1164600-1165600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr20:1164800-1165400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
4	chr20:1164800-1165600	Flanking Bivalent TSS/Enh	HepG2	liver
5	chr20:1164800-1166800	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr20:1165000-1165400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
7	chr20:1165000-1165400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr20:1165000-1165400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
9	chr20:1165000-1165400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
10	chr20:1165000-1165400	Active TSS	Brain Angular Gyrus	brain
11	chr20:1165000-1165400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
12	chr20:1165000-1165400	Bivalent Enhancer	Brain Substantia Nigra	brain
13	chr20:1165000-1165400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
14	chr20:1165000-1165600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr20:1165000-1165600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:1165000-1165600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
17	chr20:1165000-1165600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
18	chr20:1165000-1166000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr20:1165000-1166200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
20	chr20:1165000-1166200	Active TSS	Brain Anterior Caudate	brain
21	chr20:1165000-1166800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:1165000-1166800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr20:1165000-1166800	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr20:1165000-1167000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
25	chr20:1165200-1165400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr20:1165200-1165400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:1165200-1165400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr20:1165200-1165400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr20:1165200-1165400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr20:1165200-1165400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr20:1165200-1165400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
32	chr20:1165200-1165400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
33	chr20:1165200-1165400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
34	chr20:1165200-1165400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr20:1165200-1165400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr20:1165200-1165400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr20:1165200-1165400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr20:1165200-1165400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr20:1165200-1165400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr20:1165200-1165400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr20:1165200-1165400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
42	chr20:1165200-1165400	Bivalent Enhancer	Esophagus	oesophagus
43	chr20:1165200-1165400	Bivalent Enhancer	Placenta	Placenta
44	chr20:1165200-1165400	Enhancers	Pancreas	Pancrea
45	chr20:1165200-1165400	Bivalent/Poised TSS	Stomach Mucosa	stomach
46	chr20:1165200-1165400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
47	chr20:1165200-1165400	Flanking Bivalent TSS/Enh	Spleen	Spleen
48	chr20:1165200-1165400	Bivalent Enhancer	HUVEC	blood vessel
49	chr20:1165200-1165600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr20:1165200-1165600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived

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