Variant report

Variant	rs13422801
Chromosome Location	chr2:10592207-10592208
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	MAFK	chr2:10592169-10592811	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr2:10592196-10592834	Hela-S3	cervix:	n/a	n/a
3	TCF12	chr2:10592201-10592885	SK-N-SH	brain:	n/a	chr2:10592285-10592292
4	TFAP2C	chr2:10592179-10593080	Hela-S3	cervix:	n/a	chr2:10592737-10592752
5	KAP1	chr2:10592207-10592797	U2OS	brain:	n/a	n/a
6	GATA3	chr2:10592070-10592924	A549	lung:	n/a	n/a
7	MAX	chr2:10592090-10592836	A549	lung:	n/a	n/a
8	EP300	chr2:10592184-10592973	A549	lung:	n/a	n/a
9	MAX	chr2:10592120-10592829	A549	lung:	n/a	n/a
10	TCF12	chr2:10592034-10593031	A549	lung:	n/a	chr2:10592285-10592292
11	FOSL2	chr2:10592202-10592953	A549	lung:	n/a	chr2:10592208-10592219
12	EP300	chr2:10592191-10592902	A549	lung:	n/a	n/a
13	SIN3AK20	chr2:10592188-10593076	MCF-7	breast:	n/a	n/a
14	STAT3	chr2:10592201-10592833	MCF10A-Er-Src	breast:	n/a	n/a
15	GTF2F1	chr2:10592197-10592858	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr2:10592129-10592696	MCF10A-Er-Src	breast:	n/a	n/a
17	YY1	chr2:10592140-10592807	A549	lung:	n/a	n/a
18	STAT3	chr2:10592129-10592826	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10394552..10396984-chr2:10589964..10592378,2	K562	blood:
2	chr2:10586529..10589550-chr2:10592115..10595368,3	MCF-7	breast:
3	chr2:10259560..10262841-chr2:10591002..10595402,4	K562	blood:
4	chr2:10260223..10262864-chr2:10590912..10592995,2	K562	blood:
5	chr2:10493099..10495765-chr2:10590269..10592388,2	MCF-7	breast:

Variant related genes	Relation type
ODC1	TF binding region
ENSG00000217258	TF binding region
ENSG00000171848	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000257135	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1405949	1.00[AMR][1000 genomes]
rs7340282	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv873647	chr2:10576424-10597858	Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
6	nsv873648	chr2:10584639-10599493	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
7	esv1840643	chr2:10585364-10607465	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv873650	chr2:10585458-10597858	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
9	nsv873651	chr2:10585575-10597858	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
10	esv1839493	chr2:10587869-10595578	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	esv1841500	chr2:10587869-10595578	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
12	esv1842177	chr2:10587869-10595578	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	esv1835263	chr2:10587869-10611211	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10589400-10592400	Weak transcription	Esophagus	oesophagus
2	chr2:10589600-10592400	Weak transcription	Fetal Heart	heart
3	chr2:10589600-10593400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:10589600-10594200	Weak transcription	Psoas Muscle	Psoas
5	chr2:10589600-10594600	Weak transcription	Left Ventricle	heart
6	chr2:10589600-10594600	Weak transcription	Right Atrium	heart
7	chr2:10589600-10597800	Weak transcription	HSMMtube	muscle
8	chr2:10589800-10593200	Weak transcription	Thymus	Thymus
9	chr2:10590000-10592600	Weak transcription	Fetal Thymus	thymus
10	chr2:10590000-10594000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:10590000-10594000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr2:10590000-10594400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:10590000-10594400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:10590000-10594600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:10590000-10594600	Enhancers	Stomach Mucosa	stomach
16	chr2:10590000-10595200	Enhancers	HMEC	breast
17	chr2:10590200-10592600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:10590200-10592600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:10590200-10594200	Weak transcription	Fetal Brain Male	brain
20	chr2:10590400-10592400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:10590400-10592400	Enhancers	K562	blood
22	chr2:10590400-10593400	Weak transcription	Fetal Brain Female	brain
23	chr2:10590400-10593600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:10590400-10594000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:10590400-10594000	Weak transcription	Spleen	Spleen
26	chr2:10590400-10600800	Weak transcription	Fetal Lung	lung
27	chr2:10590600-10592400	Weak transcription	Right Ventricle	heart
28	chr2:10590600-10594000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:10590600-10594600	Weak transcription	Adipose Nuclei	Adipose
30	chr2:10590600-10594600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:10590600-10595200	Enhancers	Liver	Liver
32	chr2:10590800-10592400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:10590800-10592400	Weak transcription	Ovary	ovary
34	chr2:10590800-10593200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr2:10590800-10594000	Enhancers	HepG2	liver
36	chr2:10590800-10595400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:10590800-10615200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:10591000-10593600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:10591200-10595600	Enhancers	NHEK	skin
40	chr2:10591400-10592800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:10591400-10594000	Weak transcription	Fetal Intestine Large	intestine
42	chr2:10591800-10592600	Enhancers	NHLF	lung
43	chr2:10591800-10595200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:10592000-10592400	Enhancers	Small Intestine	intestine
45	chr2:10592000-10592600	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr2:10592000-10592600	Flanking Active TSS	A549	lung
47	chr2:10592000-10592800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:10592000-10592800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr2:10592000-10592800	Enhancers	Duodenum Mucosa	Duodenum
50	chr2:10592000-10592800	Enhancers	Gastric	stomach

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