Variant report

Variant	rs181994075
Chromosome Location	chr3:50711953-50711954
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	POLR2A	chr3:50711886-50713116	H1-neurons	neurons:	n/a	n/a
2	HA-E2F1	chr3:50711940-50712494	MCF-7	breast:	n/a	chr3:50712471-50712480 chr3:50712337-50712346
3	MAX	chr3:50711562-50713165	H1-hESC	embryonic stem cell:	n/a	chr3:50712815-50712825 chr3:50712930-50712940 chr3:50713023-50713032
4	MAX	chr3:50711582-50713112	H1-hESC	embryonic stem cell:	n/a	chr3:50712815-50712825 chr3:50712930-50712940 chr3:50713023-50713032
5	ZNF263	chr3:50710949-50712130	HEK293-T-REx	kidney:	n/a	n/a
6	E2F6	chr3:50711553-50712665	H1-hESC	embryonic stem cell:	n/a	chr3:50712579-50712588 chr3:50712471-50712480 chr3:50712337-50712346
7	BACH1	chr3:50711747-50713161	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr3:50711933-50712276	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr3:50711882-50712808	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr3:50711775-50713386	H1-neurons	neurons:	n/a	chr3:50712564-50712577 chr3:50712259-50712272 chr3:50712781-50712791 chr3:50712815-50712828
11	POLR2A	chr3:50711941-50712687	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr3:50711898-50712136	MCF-7	breast:	n/a	n/a
13	KAP1	chr3:50711115-50712120	HEK293	kidney:	n/a	n/a

Variant related genes	Relation type
MIR4787	TF binding region
DOCK3	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398465	chr3:50710948-50713996	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50687000-50712000	Weak transcription	Right Atrium	heart
2	chr3:50711400-50712000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
3	chr3:50711400-50712000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
4	chr3:50711400-50712000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
5	chr3:50711400-50712000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
6	chr3:50711400-50712200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr3:50711400-50714000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:50711400-50714400	Active TSS	Brain Angular Gyrus	brain
9	chr3:50711400-50714400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr3:50711600-50712000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
11	chr3:50711600-50712000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:50711600-50712000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr3:50711600-50712000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
14	chr3:50711600-50712000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:50711600-50712000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:50711600-50712000	Flanking Active TSS	Fetal Brain Female	brain
17	chr3:50711600-50712000	Bivalent Enhancer	Fetal Thymus	thymus
18	chr3:50711600-50712000	Enhancers	Pancreas	Pancrea
19	chr3:50711600-50712000	Enhancers	Right Ventricle	heart
20	chr3:50711600-50712000	Bivalent Enhancer	NH-A	brain
21	chr3:50711600-50712200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr3:50711600-50712200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
23	chr3:50711600-50712200	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr3:50711600-50712200	Bivalent Enhancer	Lung	lung
25	chr3:50711600-50713800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr3:50711800-50712000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr3:50711800-50712000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr3:50711800-50712000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:50711800-50712000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:50711800-50712000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:50711800-50712000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:50711800-50712000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:50711800-50712000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr3:50711800-50712000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr3:50711800-50712000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr3:50711800-50712000	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
37	chr3:50711800-50712000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr3:50711800-50712000	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
39	chr3:50711800-50712000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:50711800-50712000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:50711800-50712000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr3:50711800-50712000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:50711800-50712000	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr3:50711800-50712000	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr3:50711800-50712000	Bivalent/Poised TSS	Colonic Mucosa	Colon
46	chr3:50711800-50712000	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
47	chr3:50711800-50712000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
48	chr3:50711800-50712000	Enhancers	Esophagus	oesophagus
49	chr3:50711800-50712000	Bivalent Enhancer	Fetal Brain Male	brain
50	chr3:50711800-50712000	Bivalent Enhancer	Fetal Intestine Large	intestine

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