Variant report

Variant	rs187236245
Chromosome Location	chr2:20666982-20666983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:20665733..20672605-chr2:20815236..20823686,12	MCF-7	breast:
2	chr2:20666502..20669151-chr2:20670471..20672629,2	K562	blood:
3	chr2:20665945..20667878-chr2:20818560..20821196,2	MCF-7	breast:
4	chr2:20664203..20670367-chr2:20692234..20698325,8	MCF-7	breast:
5	chr2:20664607..20668124-chr2:20695979..20697916,4	MCF-7	breast:
6	chr2:20664924..20667934-chr2:20777556..20780555,3	MCF-7	breast:
7	chr2:20666244..20668102-chr2:20780641..20782440,2	MCF-7	breast:
8	chr2:20642734..20659399-chr2:20663729..20679011,83	MCF-7	breast:
9	chr2:20665586..20667484-chr2:20827548..20829987,2	MCF-7	breast:
10	chr2:20643286..20659825-chr2:20662702..20680153,143	MCF-7	breast:
11	chr2:20664677..20667421-chr2:20834049..20837198,4	MCF-7	breast:
12	chr2:11681425..11683058-chr2:20665986..20668098,2	MCF-7	breast:
13	chr2:20666575..20668936-chr2:20816033..20817943,2	MCF-7	breast:
14	chr2:20666213..20668504-chr2:20794709..20797277,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143878	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000228950	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873717	chr2:20625174-20756900	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv873718	chr2:20627875-20752152	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv873719	chr2:20628882-20756900	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv833537	chr2:20630092-20826816	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
5	nsv873720	chr2:20645835-20756900	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv873721	chr2:20645835-20759789	Enhancers Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv873722	chr2:20652507-20705910	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv3426278	chr2:20665696-20668244	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	esv3427334	chr2:20665921-20668019	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv2438580	chr2:20666061-20667756	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	esv9021	chr2:20666426-20667242	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv2124231	chr2:20666481-20667156	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	esv3496673	chr2:20666528-20667083	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv3457423	chr2:20666568-20667052	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv3496676	chr2:20666589-20667064	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3496677	chr2:20666597-20667009	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv3457422	chr2:20666601-20667043	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	esv3457421	chr2:20666607-20667041	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3496679	chr2:20666609-20667022	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv3457425	chr2:20666617-20667000	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv3496674	chr2:20666617-20667032	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv5131	chr2:20666633-20667071	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	esv3330186	chr2:20666637-20667002	Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	esv3496678	chr2:20666662-20666988	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	esv3457426	chr2:20666666-20666986	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	esv3496680	chr2:20666666-20666986	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	esv1195912	chr2:20666678-20666985	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20653400-20674000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:20656200-20671800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:20660800-20667200	Weak transcription	Lung	lung
4	chr2:20664400-20672400	Weak transcription	Right Atrium	heart
5	chr2:20665400-20667600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr2:20665400-20667600	Enhancers	Fetal Muscle Leg	muscle
7	chr2:20665400-20667600	Enhancers	Pancreas	Pancrea
8	chr2:20665400-20668200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:20665400-20668200	Enhancers	Brain Germinal Matrix	brain
10	chr2:20665400-20668600	Enhancers	Placenta	Placenta
11	chr2:20665400-20669600	Enhancers	Gastric	stomach
12	chr2:20665400-20669800	Enhancers	Stomach Mucosa	stomach
13	chr2:20665400-20670400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:20665600-20667200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:20665600-20667200	Enhancers	NHEK	skin
16	chr2:20665600-20667600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:20665600-20667600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:20665600-20667600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:20665600-20667600	Enhancers	Hela-S3	cervix
20	chr2:20665600-20667800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:20665600-20667800	Enhancers	Adipose Nuclei	Adipose
22	chr2:20665800-20667000	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:20665800-20667400	Enhancers	Stomach Smooth Muscle	stomach
24	chr2:20665800-20667800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:20665800-20667800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:20665800-20667800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:20666000-20667200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:20666000-20667200	Enhancers	Fetal Brain Female	brain
29	chr2:20666000-20667400	Enhancers	HMEC	breast
30	chr2:20666000-20667600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:20666200-20667200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr2:20666200-20667400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:20666200-20667400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:20666200-20667400	Enhancers	Brain Anterior Caudate	brain
35	chr2:20666200-20667600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:20666200-20667800	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:20666200-20668000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:20666200-20668000	Enhancers	Ovary	ovary
39	chr2:20666200-20668200	Enhancers	Brain Cingulate Gyrus	brain
40	chr2:20666200-20668400	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:20666400-20667200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:20666400-20667600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:20666400-20668200	Enhancers	Brain Substantia Nigra	brain
44	chr2:20666400-20671600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:20666400-20672400	Weak transcription	Esophagus	oesophagus
46	chr2:20666400-20681800	Weak transcription	Colon Smooth Muscle	Colon
47	chr2:20666600-20667000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:20666600-20667000	Weak transcription	Spleen	Spleen
49	chr2:20666600-20671800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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