Variant report

Variant	rs72804479
Chromosome Location	chr2:47077925-47077926
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	EP300	chr2:47073928-47078551	SK-N-SH	brain:	n/a	chr2:47077523-47077533 chr2:47076132-47076146 chr2:47077719-47077726
2	TEAD4	chr2:47077767-47078304	ECC-1	luminal epithelium:	n/a	n/a
3	TEAD4	chr2:47077827-47078358	ECC-1	luminal epithelium:	n/a	n/a
4	TAF1	chr2:47077858-47078106	SK-N-SH	brain:	n/a	n/a
5	CEBPB	chr2:47077903-47078217	IMR90	lung:	n/a	chr2:47078138-47078146
6	CTCF	chr2:47077900-47078050	HRPEpiC	eye:	n/a	n/a
7	FOS	chr2:47077902-47078250	MCF10A-Er-Src	breast:	n/a	chr2:47078139-47078148 chr2:47078066-47078077 chr2:47078064-47078075 chr2:47078068-47078076
8	EP300	chr2:47077685-47078425	ECC-1	luminal epithelium:	n/a	chr2:47077719-47077726
9	YY1	chr2:47077901-47078130	HCT-116	colon:	n/a	n/a
10	STAT3	chr2:47077883-47078221	MCF10A-Er-Src	breast:	n/a	chr2:47078206-47078214
11	NFIC	chr2:47077668-47078466	ECC-1	luminal epithelium:	n/a	n/a
12	TEAD4	chr2:47076816-47078460	SK-N-SH	brain:	n/a	n/a
13	MAX	chr2:47077767-47078426	SK-N-SH	brain:	n/a	chr2:47078067-47078076
14	EP300	chr2:47071015-47078457	SK-N-SH	brain:	n/a	chr2:47077523-47077533 chr2:47076132-47076146 chr2:47077719-47077726
15	RCOR1	chr2:47073664-47078554	IMR90	lung:	n/a	n/a
16	POLR2A	chr2:47077841-47078154	U87	brain:	n/a	n/a
17	YY1	chr2:47077830-47078261	A549	lung:	n/a	n/a
18	MAFK	chr2:47077753-47078219	IMR90	lung:	n/a	n/a
19	CTCF	chr2:47077840-47077990	AoAF	blood vessel:	n/a	n/a
20	FOSL2	chr2:47077724-47078449	SK-N-SH	brain:	n/a	chr2:47078139-47078148 chr2:47078064-47078075 chr2:47078068-47078076
21	PBX3	chr2:47077752-47078390	SK-N-SH	brain:	n/a	chr2:47078138-47078147
22	MAZ	chr2:47076242-47078509	IMR90	lung:	n/a	chr2:47077671-47077681 chr2:47078067-47078076
23	GATA3	chr2:47075931-47078483	A549	lung:	n/a	chr2:47077022-47077029 chr2:47077022-47077029 chr2:47077015-47077036 chr2:47077017-47077033 chr2:47077022-47077029 chr2:47076130-47076141 chr2:47077020-47077030 chr2:47076208-47076218
24	POLR2A	chr2:47077891-47078017	A549	lung:	n/a	n/a
25	RAD21	chr2:47077845-47078304	ECC-1	luminal epithelium:	n/a	n/a
26	TEAD4	chr2:47076157-47078405	SK-N-SH	brain:	n/a	n/a
27	YY1	chr2:47077850-47078173	SK-N-SH_RA	brain:	n/a	n/a
28	FOS	chr2:47077891-47078247	MCF10A-Er-Src	breast:	n/a	chr2:47078139-47078148 chr2:47078066-47078077 chr2:47078064-47078075 chr2:47078068-47078076
29	GATA3	chr2:47076105-47078515	SK-N-SH	brain:	n/a	chr2:47077022-47077029 chr2:47077022-47077029 chr2:47077015-47077036 chr2:47077017-47077033 chr2:47077022-47077029 chr2:47076130-47076141 chr2:47077020-47077030 chr2:47076208-47076218
30	GATA2	chr2:47077803-47078220	HUVEC	blood vessel:	n/a	n/a
31	MYC	chr2:47077887-47078285	MCF10A-Er-Src	breast:	n/a	chr2:47078067-47078076
32	POLR2A	chr2:47077868-47078227	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr2:47077800-47077950	HCFaa	heart:	n/a	n/a
34	RCOR1	chr2:47077888-47078301	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr2:47077748-47078326	HUVEC	blood vessel:	n/a	n/a
36	RAD21	chr2:47077782-47078264	IMR90	lung:	n/a	n/a
37	TCF12	chr2:47077666-47078493	ECC-1	luminal epithelium:	n/a	n/a
38	SIN3AK20	chr2:47077836-47078311	SK-N-SH	brain:	n/a	n/a
39	MAX	chr2:47077879-47078232	Hela-S3	cervix:	n/a	chr2:47078067-47078076
40	MAX	chr2:47077072-47078392	HCT-116	colon:	n/a	chr2:47077671-47077681 chr2:47078067-47078076
41	NFIC	chr2:47077836-47078334	ECC-1	luminal epithelium:	n/a	n/a
42	MAX	chr2:47076721-47078656	A549	lung:	n/a	chr2:47077671-47077681 chr2:47078067-47078076
43	MXI1	chr2:47073719-47078370	IMR90	lung:	n/a	n/a
44	MYC	chr2:47077902-47078235	MCF10A-Er-Src	breast:	n/a	chr2:47078067-47078076
45	FOS	chr2:47077896-47078252	MCF10A-Er-Src	breast:	n/a	chr2:47078139-47078148 chr2:47078066-47078077 chr2:47078064-47078075 chr2:47078068-47078076
46	YY1	chr2:47077714-47078252	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr2:47077880-47078030	HMF	breast:	n/a	n/a
48	TCF12	chr2:47073594-47078762	A549	lung:	n/a	chr2:47075434-47075444
49	TCF12	chr2:47073279-47078605	SK-N-SH	brain:	n/a	chr2:47075434-47075444
50	STAT3	chr2:47077276-47078242	MCF10A-Er-Src	breast:	n/a	chr2:47078206-47078214 chr2:47077481-47077504 chr2:47077443-47077454

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47072263..47075274-chr2:47076219..47078746,3	K562	blood:
2	chr2:47070844..47074543-chr2:47075067..47077968,4	K562	blood:

Variant related genes	Relation type
LINC01119	TF binding region
ENSG00000239332	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13415138	0.84[AMR][1000 genomes]
rs4953431	0.90[EUR][1000 genomes]
rs4953434	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61542554	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs875343	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs935380	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47069400-47082400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:47072000-47078400	Enhancers	Lung	lung
3	chr2:47072000-47078400	Enhancers	Right Ventricle	heart
4	chr2:47072000-47078600	Enhancers	Fetal Stomach	stomach
5	chr2:47072000-47078600	Enhancers	Ovary	ovary
6	chr2:47072200-47078400	Enhancers	Left Ventricle	heart
7	chr2:47072200-47078600	Enhancers	Pancreas	Pancrea
8	chr2:47072200-47078800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr2:47072400-47078600	Enhancers	Fetal Intestine Small	intestine
10	chr2:47072600-47078000	Enhancers	Small Intestine	intestine
11	chr2:47072600-47078400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:47072600-47078400	Enhancers	Fetal Heart	heart
13	chr2:47072600-47078800	Enhancers	HUVEC	blood vessel
14	chr2:47072600-47080400	Enhancers	HMEC	breast
15	chr2:47072800-47078000	Enhancers	Fetal Intestine Large	intestine
16	chr2:47072800-47078600	Enhancers	Right Atrium	heart
17	chr2:47072800-47078600	Enhancers	NHDF-Ad	bronchial
18	chr2:47072800-47080200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:47072800-47080400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:47073000-47078200	Enhancers	Adipose Nuclei	Adipose
21	chr2:47073000-47078200	Enhancers	Fetal Kidney	kidney
22	chr2:47073400-47078000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:47073400-47078600	Enhancers	Stomach Mucosa	stomach
24	chr2:47073400-47078600	Enhancers	Osteobl	bone
25	chr2:47073600-47078000	Enhancers	Esophagus	oesophagus
26	chr2:47073600-47078600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:47073600-47078800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:47073800-47078000	Enhancers	Fetal Thymus	thymus
29	chr2:47073800-47078400	Enhancers	Psoas Muscle	Psoas
30	chr2:47073800-47078400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr2:47073800-47078600	Enhancers	NHEK	skin
32	chr2:47074000-47078600	Enhancers	HSMM	muscle
33	chr2:47074000-47079600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:47075000-47078000	Enhancers	Duodenum Mucosa	Duodenum
35	chr2:47075000-47078600	Enhancers	Gastric	stomach
36	chr2:47075200-47078000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:47075200-47080400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:47075200-47084400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:47075400-47078800	Enhancers	Hela-S3	cervix
40	chr2:47075600-47078000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:47075800-47078200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:47076000-47078400	Enhancers	Colonic Mucosa	Colon
43	chr2:47076000-47078600	Enhancers	Fetal Muscle Trunk	muscle
44	chr2:47076600-47081600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:47076800-47081600	Weak transcription	Brain Anterior Caudate	brain
46	chr2:47077000-47078000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:47077000-47078000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr2:47077000-47078400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr2:47077000-47078600	Enhancers	Fetal Muscle Leg	muscle
50	chr2:47077000-47080600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links