Variant report

Variant	rs10929670
Chromosome Location	chr2:10593623-10593624
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	POLR2A	chr2:10593592-10594063	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr2:10593587-10594316	MCF10A-Er-Src	breast:	n/a	chr2:10593744-10593753 chr2:10593745-10593752 chr2:10593740-10593755
3	MYC	chr2:10593557-10594316	MCF10A-Er-Src	breast:	n/a	chr2:10593744-10593753 chr2:10593745-10593752 chr2:10593740-10593755

No.	Distal block	Cell Line	Cell type
1	chr2:10580061..10581971-chr2:10592893..10594912,2	MCF-7	breast:
2	chr2:10592821..10595516-chr2:10596638..10600708,3	MCF-7	breast:
3	chr2:10586529..10589550-chr2:10592115..10595368,3	MCF-7	breast:
4	chr2:10593514..10595515-chr2:10610496..10612872,2	K562	blood:
5	chr2:10259560..10262841-chr2:10591002..10595402,4	K562	blood:
6	chr2:10258968..10261511-chr2:10592370..10593995,2	MCF-7	breast:
7	chr2:10546025..10548259-chr2:10592640..10594576,2	MCF-7	breast:

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12692409	0.83[EUR][1000 genomes]
rs13383886	0.81[EUR][1000 genomes]
rs13384008	0.81[EUR][1000 genomes]
rs13407603	0.81[EUR][1000 genomes]
rs17435697	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34839615	0.81[EUR][1000 genomes]
rs55914644	0.83[EUR][1000 genomes]
rs6432097	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7567010	0.83[EUR][1000 genomes]
rs885815	0.96[EUR][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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10589600-10594200	Weak transcription	Psoas Muscle	Psoas
2	chr2:10589600-10594600	Weak transcription	Left Ventricle	heart
3	chr2:10589600-10594600	Weak transcription	Right Atrium	heart
4	chr2:10589600-10597800	Weak transcription	HSMMtube	muscle
5	chr2:10590000-10594000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:10590000-10594000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:10590000-10594400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:10590000-10594400	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:10590000-10594600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:10590000-10594600	Enhancers	Stomach Mucosa	stomach
11	chr2:10590000-10595200	Enhancers	HMEC	breast
12	chr2:10590200-10594200	Weak transcription	Fetal Brain Male	brain
13	chr2:10590400-10594000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:10590400-10594000	Weak transcription	Spleen	Spleen
15	chr2:10590400-10600800	Weak transcription	Fetal Lung	lung
16	chr2:10590600-10594000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:10590600-10594600	Weak transcription	Adipose Nuclei	Adipose
18	chr2:10590600-10594600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr2:10590600-10595200	Enhancers	Liver	Liver
20	chr2:10590800-10594000	Enhancers	HepG2	liver
21	chr2:10590800-10595400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr2:10590800-10615200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:10591200-10595600	Enhancers	NHEK	skin
24	chr2:10591400-10594000	Weak transcription	Fetal Intestine Large	intestine
25	chr2:10591800-10595200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:10592000-10595200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:10592400-10598000	Weak transcription	Small Intestine	intestine
28	chr2:10592600-10594000	Enhancers	A549	lung
29	chr2:10592600-10594200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:10592600-10594200	Enhancers	Hela-S3	cervix
31	chr2:10592600-10594400	Weak transcription	NHLF	lung
32	chr2:10592600-10594600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:10592600-10595200	Enhancers	Fetal Thymus	thymus
34	chr2:10592600-10597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:10592600-10597800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:10592600-10598000	Weak transcription	Fetal Intestine Small	intestine
37	chr2:10592600-10598000	Weak transcription	Pancreas	Pancrea
38	chr2:10592800-10594000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr2:10592800-10594200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:10592800-10594600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:10592800-10594600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:10592800-10594600	Weak transcription	Right Ventricle	heart
43	chr2:10592800-10594600	Weak transcription	Osteobl	bone
44	chr2:10592800-10595000	Weak transcription	Fetal Heart	heart
45	chr2:10592800-10597800	Weak transcription	HSMM	muscle
46	chr2:10592800-10597800	Weak transcription	NHDF-Ad	bronchial
47	chr2:10593000-10594000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:10593000-10595400	Enhancers	Esophagus	oesophagus
49	chr2:10593200-10593800	Enhancers	Primary T cells fromperipheralblood	blood
50	chr2:10593200-10593800	Enhancers	Thymus	Thymus

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