Variant report

Variant	rs72948457
Chromosome Location	chr2:113381712-113381713
allele	A/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	E2F4	chr2:113381618-113382269	MCF10A-Er-Src	breast:	n/a	n/a
2	TFAP2A	chr2:113381627-113382371	Hela-S3	cervix:	n/a	chr2:113382089-113382100 chr2:113382145-113382154 chr2:113382089-113382100 chr2:113382088-113382103
3	MYC	chr2:113381467-113381760	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr2:113381463-113382484	MCF10A-Er-Src	breast:	n/a	chr2:113382148-113382156 chr2:113382145-113382154 chr2:113382143-113382155 chr2:113382143-113382154
5	STAT3	chr2:113381483-113382404	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr2:113381461-113382455	MCF10A-Er-Src	breast:	n/a	chr2:113382148-113382156 chr2:113382145-113382154 chr2:113382143-113382155 chr2:113382143-113382154
7	STAT3	chr2:113381494-113381808	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr2:113381492-113382333	MCF10A-Er-Src	breast:	n/a	n/a
9	TFAP2C	chr2:113381676-113382393	Hela-S3	cervix:	n/a	n/a
10	FOS	chr2:113381547-113382582	MCF10A-Er-Src	breast:	n/a	chr2:113382148-113382156 chr2:113382145-113382154 chr2:113382143-113382155 chr2:113382143-113382154
11	MYC	chr2:113381677-113381743	MCF10A-Er-Src	breast:	n/a	n/a
12	TCF12	chr2:113381351-113382507	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr2:113381419-113382508	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:113379636..113386577-chr2:113398111..113406278,16	MCF-7	breast:
2	chr2:113340704..113344392-chr2:113381565..113384382,5	MCF-7	breast:
3	chr2:113380240..113386960-chr2:113401832..113406779,10	MCF-7	breast:
4	chr2:113380970..113385799-chr2:113479613..113484625,8	K562	blood:
5	chr2:113380065..113382456-chr2:113480700..113483703,3	MCF-7	breast:
6	chr2:113380843..113384962-chr2:113480402..113484110,5	K562	blood:

Variant related genes	Relation type
ENSG00000231747	TF binding region
ENSG00000144130	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000144136	Chromatin interaction
ENSG00000237753	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17016958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72948444	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv470480	chr2:113373950-113429752	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113348600-113383600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:113349000-113384000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:113357800-113384200	Weak transcription	Pancreas	Pancrea
4	chr2:113358000-113384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:113370400-113383800	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:113371600-113382000	Weak transcription	Spleen	Spleen
7	chr2:113372200-113384200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:113372400-113384000	Weak transcription	Brain Anterior Caudate	brain
9	chr2:113372400-113388600	Weak transcription	Gastric	stomach
10	chr2:113372800-113388000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:113373000-113383200	Weak transcription	Fetal Brain Female	brain
12	chr2:113373200-113384000	Weak transcription	Brain Germinal Matrix	brain
13	chr2:113377400-113384200	Weak transcription	Right Atrium	heart
14	chr2:113378200-113382000	Weak transcription	Adipose Nuclei	Adipose
15	chr2:113378400-113382200	Enhancers	HMEC	breast
16	chr2:113378800-113382000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:113378800-113384000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:113379800-113384200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:113379800-113387600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:113380000-113381800	Enhancers	Hela-S3	cervix
21	chr2:113380000-113382000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:113380000-113382200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:113380000-113384000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:113380200-113381800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr2:113380200-113381800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:113380200-113381800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:113380200-113381800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:113380200-113382000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:113380200-113382000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:113380200-113382400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:113380200-113387600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr2:113380400-113382000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:113380400-113384200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:113380400-113387600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:113380600-113381800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:113380600-113381800	Weak transcription	Small Intestine	intestine
37	chr2:113380600-113381800	Weak transcription	Osteobl	bone
38	chr2:113380800-113388400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:113381000-113384200	Enhancers	Primary T cells fromperipheralblood	blood
40	chr2:113381000-113384400	Enhancers	NHLF	lung
41	chr2:113381400-113382000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:113381400-113382600	Enhancers	Primary T cells from cord blood	blood
43	chr2:113381400-113384200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:113381400-113384200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr2:113381400-113384200	Enhancers	HUVEC	blood vessel
46	chr2:113381400-113388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:113381600-113382000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:113381600-113382200	Enhancers	Esophagus	oesophagus
49	chr2:113381600-113382200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr2:113381600-113382400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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