Variant report

Variant	rs455037
Chromosome Location	chr12:50337544-50337545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50336938..50340319-chr12:50341822..50344338,4	K562	blood:
2	chr12:50335624..50338438-chr12:50341957..50344338,2	K562	blood:
3	chr12:50336622..50338701-chr12:50446890..50448853,2	MCF-7	breast:
4	chr12:50308354..50310018-chr12:50335915..50338737,2	K562	blood:
5	chr12:50331211..50335185-chr12:50337113..50339426,3	MCF-7	breast:
6	chr12:50334465..50337544-chr12:50338372..50341772,4	K562	blood:
7	chr12:50302479..50304923-chr12:50336805..50339549,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11169179	1.00[EUR][1000 genomes]
rs11169181	1.00[EUR][1000 genomes]
rs12316969	1.00[EUR][1000 genomes]
rs12318294	1.00[EUR][1000 genomes]
rs2697111	1.00[EUR][1000 genomes]
rs296738	1.00[EUR][1000 genomes]
rs296748	1.00[EUR][1000 genomes]
rs296749	1.00[EUR][1000 genomes]
rs296753	1.00[EUR][1000 genomes]
rs296755	1.00[EUR][1000 genomes]
rs296757	1.00[EUR][1000 genomes]
rs296758	1.00[EUR][1000 genomes]
rs296761	1.00[EUR][1000 genomes]
rs296764	1.00[EUR][1000 genomes]
rs296765	1.00[EUR][1000 genomes]
rs372753	1.00[EUR][1000 genomes]
rs425726	1.00[EUR][1000 genomes]
rs60009415	1.00[EUR][1000 genomes]
rs672697	1.00[EUR][1000 genomes]
rs73310966	1.00[EUR][1000 genomes]
rs74087196	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899073	chr12:50335628-50360461	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50323400-50338800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:50327200-50338600	Weak transcription	Fetal Thymus	thymus
3	chr12:50331000-50338800	Weak transcription	Fetal Brain Female	brain
4	chr12:50333800-50338600	Weak transcription	Right Atrium	heart
5	chr12:50334000-50339200	Weak transcription	Lung	lung
6	chr12:50335400-50337600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:50335600-50339200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr12:50335800-50337800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:50335800-50337800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:50335800-50338200	Enhancers	Esophagus	oesophagus
11	chr12:50335800-50338200	Enhancers	Spleen	Spleen
12	chr12:50335800-50338800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:50336000-50337800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:50336000-50339200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:50336200-50339800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:50336200-50340000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:50336400-50338000	Flanking Active TSS	Hela-S3	cervix
18	chr12:50336400-50339800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:50336600-50339200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr12:50336800-50338200	Enhancers	Stomach Mucosa	stomach
21	chr12:50337200-50338000	Weak transcription	Pancreas	Pancrea
22	chr12:50337200-50338400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr12:50337200-50338800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:50337200-50339000	Weak transcription	Gastric	stomach
25	chr12:50337200-50339200	Weak transcription	Colonic Mucosa	Colon
26	chr12:50337200-50339200	Weak transcription	HMEC	breast
27	chr12:50337200-50339400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:50337400-50337800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:50337400-50338000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr12:50337400-50338400	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr12:50337400-50338600	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:50337400-50338600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:50337400-50339200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:50337400-50339200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:50337400-50339200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:50337400-50339200	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:50337400-50339200	Weak transcription	NHEK	skin

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