Variant report

Variant	rs3791872
Chromosome Location	chr2:171679515-171679516
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	chr2:171679356-171680020	K562	blood:	n/a	chr2:171679713-171679722 chr2:171679660-171679673
2	CTBP2	chr2:171676326-171681103	H1-hESC	embryonic stem cell:	n/a	n/a
3	NR2F2	chr2:171679428-171679824	K562	blood:	n/a	n/a
4	GATA2	chr2:171679397-171679786	K562	blood:	n/a	chr2:171679713-171679722 chr2:171679660-171679673
5	POLR2A	chr2:171678781-171679929	H1-neurons	neurons:	n/a	n/a
6	TAL1	chr2:171679432-171679903	K562	blood:	n/a	chr2:171679704-171679722
7	SIN3A	chr2:171678236-171679635	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr2:171679488-171679847	K562	blood:	n/a	n/a
9	POLR2A	chr2:171679486-171679894	K562	blood:	n/a	n/a
10	GATA1	chr2:171679460-171679869	PBDEFetal	blood:	n/a	chr2:171679713-171679722 chr2:171679660-171679673
11	CCNT2	chr2:171679507-171679920	K562	blood:	n/a	chr2:171679704-171679724
12	ZMIZ1	chr2:171679493-171679817	K562	blood:	n/a	n/a
13	POLR2A	chr2:171677005-171680495	H1-neurons	neurons:	n/a	n/a
14	EP300	chr2:171679473-171679881	K562	blood:	n/a	n/a
15	MAX	chr2:171678937-171679562	H1-hESC	embryonic stem cell:	n/a	n/a
16	E2F6	chr2:171678636-171680907	H1-hESC	embryonic stem cell:	n/a	chr2:171680208-171680215 chr2:171680207-171680218 chr2:171679777-171679786 chr2:171680353-171680363 chr2:171680208-171680215 chr2:171680021-171680031 chr2:171680208-171680215 chr2:171680517-171680524 chr2:171680517-171680524 chr2:171680517-171680524 chr2:171680513-171680525 chr2:171680719-171680730 chr2:171680208-171680219 chr2:171680207-171680216
17	GATA2	chr2:171679431-171679852	K562	blood:	n/a	chr2:171679713-171679722 chr2:171679660-171679673
18	CBX3	chr2:171679438-171680123	K562	blood:	n/a	n/a
19	ZNF143	chr2:171678786-171679555	H1-hESC	embryonic stem cell:	n/a	n/a
20	TEAD4	chr2:171679370-171679894	K562	blood:	n/a	n/a
21	STAT5A	chr2:171679450-171679888	K562	blood:	n/a	chr2:171679573-171679581
22	SETDB1	chr2:171678563-171680093	K562	blood:	n/a	n/a
23	ELF1	chr2:171679503-171679720	K562	blood:	n/a	n/a
24	TRIM28	chr2:171679356-171679951	K562	blood:	n/a	n/a
25	E2F6	chr2:171678799-171680817	H1-hESC	embryonic stem cell:	n/a	chr2:171680208-171680215 chr2:171680207-171680218 chr2:171679777-171679786 chr2:171680353-171680363 chr2:171680208-171680215 chr2:171680021-171680031 chr2:171680208-171680215 chr2:171680517-171680524 chr2:171680517-171680524 chr2:171680517-171680524 chr2:171680513-171680525 chr2:171680719-171680730 chr2:171680208-171680219 chr2:171680207-171680216
26	MAX	chr2:171678704-171680044	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPD	chr2:171679398-171679808	K562	blood:	n/a	n/a
28	SUZ12	chr2:171676388-171680031	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr2:171679481-171679887	K562	blood:	n/a	n/a
30	NR2F2	chr2:171679392-171679894	K562	blood:	n/a	n/a
31	CBX3	chr2:171679472-171680034	K562	blood:	n/a	n/a
32	GATA1	chr2:171677081-171680037	PBDE	blood:	n/a	chr2:171679713-171679722 chr2:171679319-171679327 chr2:171678862-171678872 chr2:171679660-171679673
33	MAX	chr2:171678828-171679552	H1-hESC	embryonic stem cell:	n/a	n/a
34	PML	chr2:171679437-171679809	K562	blood:	n/a	n/a
35	CEBPD	chr2:171679464-171679948	K562	blood:	n/a	n/a
36	PML	chr2:171679416-171679785	K562	blood:	n/a	n/a
37	TEAD4	chr2:171679351-171679905	K562	blood:	n/a	n/a
38	GABPA	chr2:171679506-171679789	K562	blood:	n/a	n/a
39	GABPA	chr2:171679509-171679902	K562	blood:	n/a	n/a
40	POLR2A	chr2:171678356-171680959	PBDE	blood:	n/a	n/a
41	CTCF	chr2:171678556-171679959	SK-N-SH	brain:	n/a	chr2:171678944-171678960

No.	Distal block	Cell Line	Cell type
1	chr2:171678939..171680621-chr2:171682789..171685918,3	MCF-7	breast:
2	chr2:171671327..171674926-chr2:171677821..171681963,4	K562	blood:
3	chr2:171673426..171677773-chr2:171677821..171680534,5	K562	blood:

Variant related genes	Relation type
ENSG00000235934	TF binding region
ENSG00000235934	Chromatin interaction
ENSG00000128683	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1978340	0.95[ASN][1000 genomes]
rs2356236	0.84[EUR][1000 genomes]
rs2883888	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34137349	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35127716	0.80[AMR][1000 genomes]
rs3762553	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3762556	0.84[EUR][1000 genomes]
rs3791871	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3791878	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56989102	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62168446	0.80[AMR][1000 genomes]
rs62168448	0.80[AMR][1000 genomes]
rs62168454	1.00[ASN][1000 genomes]
rs6755814	0.82[ASN][1000 genomes]

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171674400-171682200	Transcr. at gene 5' and 3'	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:171676400-171679600	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr2:171676400-171679800	Bivalent Enhancer	Fetal Stomach	stomach
4	chr2:171676800-171679600	Enhancers	Gastric	stomach
5	chr2:171676800-171679800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr2:171676800-171680000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
7	chr2:171676800-171680600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:171676800-171680600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
9	chr2:171676800-171681200	Transcr. at gene 5' and 3'	Cortex derived primary cultured neurospheres	brain
10	chr2:171677000-171679800	Bivalent Enhancer	Esophagus	oesophagus
11	chr2:171677000-171680000	Flanking Bivalent TSS/Enh	NHEK	skin
12	chr2:171677200-171680600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:171677400-171680000	Bivalent Enhancer	Fetal Lung	lung
14	chr2:171677400-171680600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr2:171677600-171679600	Bivalent Enhancer	Left Ventricle	heart
16	chr2:171677600-171680600	Bivalent Enhancer	Placenta	Placenta
17	chr2:171677800-171679800	Bivalent Enhancer	Stomach Mucosa	stomach
18	chr2:171677800-171679800	Bivalent Enhancer	HMEC	breast
19	chr2:171677800-171679800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
20	chr2:171677800-171680000	Enhancers	Pancreas	Pancrea
21	chr2:171677800-171680400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:171677800-171680600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
23	chr2:171677800-171680600	Bivalent Enhancer	Liver	Liver
24	chr2:171677800-171680800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:171678000-171680200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:171678000-171680600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:171678000-171680800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:171678200-171679600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
29	chr2:171678200-171680600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:171678200-171680600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:171678400-171679600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:171678400-171679600	Enhancers	Ovary	ovary
33	chr2:171678400-171680200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:171678600-171679600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
35	chr2:171678600-171680000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
36	chr2:171678600-171680000	Bivalent/Poised TSS	A549	lung
37	chr2:171678600-171680600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:171678800-171679600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
39	chr2:171678800-171679800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
40	chr2:171678800-171679800	Bivalent Enhancer	Fetal Intestine Small	intestine
41	chr2:171678800-171680600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:171679000-171679600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:171679000-171679600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr2:171679000-171679600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr2:171679000-171679600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:171679000-171679600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
47	chr2:171679000-171679600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
48	chr2:171679000-171679600	Enhancers	K562	blood
49	chr2:171679000-171679800	Bivalent Enhancer	HSMMtube	muscle
50	chr2:171679000-171680000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived

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