Variant report

Variant	rs296757
Chromosome Location	chr12:50359471-50359472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50353765..50356841-chr12:50356981..50360242,4	MCF-7	breast:
2	chr12:50358701..50362803-chr12:50449341..50451682,4	MCF-7	breast:
3	chr12:50352910..50356046-chr12:50357826..50360762,4	K562	blood:
4	chr12:50358725..50360961-chr12:50462832..50465036,2	K562	blood:
5	chr12:50358386..50360982-chr12:50417949..50420523,2	MCF-7	breast:
6	chr12:50359402..50360099-chr12:50450046..50450669,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161798	Chromatin interaction
ENSG00000161800	Chromatin interaction
ENSG00000110881	Chromatin interaction
ENSG00000257588	Chromatin interaction

Extended variants
information (count: 36 )
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];0.95[ASN][1000 genomes]
rs296758	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs296761	1.00[EUR][1000 genomes];1.00[ASN][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]
rs455037	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:15 , 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
9	nsv899074	chr12:50344976-50360461	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv1828759	chr12:50349765-50366300	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	esv1827130	chr12:50349765-50379667	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv469374	chr12:50349765-50467769	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
13	nsv469375	chr12:50349765-50467769	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS 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	28 gene(s)	inside rSNPs	diseases
14	nsv558837	chr12:50349765-50467769	Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	nsv523899	chr12:50354437-50366300	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50355400-50361200	Weak transcription	Lung	lung
2	chr12:50356000-50361000	Weak transcription	Ovary	ovary
3	chr12:50356800-50361000	Weak transcription	Brain Anterior Caudate	brain
4	chr12:50357000-50360600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:50357000-50360600	Weak transcription	Brain Substantia Nigra	brain
6	chr12:50357000-50360800	Weak transcription	Fetal Brain Female	brain
7	chr12:50357200-50360800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:50357400-50360400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:50357400-50360400	Enhancers	Hela-S3	cervix
10	chr12:50357400-50360600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:50357400-50360600	Weak transcription	Fetal Brain Male	brain
12	chr12:50357400-50360600	Weak transcription	Spleen	Spleen
13	chr12:50357400-50360800	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:50357400-50361000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:50357400-50361000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:50357400-50361000	Weak transcription	Right Ventricle	heart
17	chr12:50357400-50361000	Weak transcription	HMEC	breast
18	chr12:50357400-50361000	Weak transcription	HSMMtube	muscle
19	chr12:50357400-50361000	Weak transcription	HUVEC	blood vessel
20	chr12:50357600-50360000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr12:50357600-50361000	Weak transcription	Left Ventricle	heart
22	chr12:50357800-50359800	Weak transcription	Brain Germinal Matrix	brain
23	chr12:50357800-50360600	Weak transcription	Esophagus	oesophagus
24	chr12:50357800-50360600	Weak transcription	A549	lung
25	chr12:50357800-50360800	Weak transcription	Liver	Liver
26	chr12:50357800-50361000	Weak transcription	Right Atrium	heart
27	chr12:50357800-50366400	Weak transcription	Gastric	stomach
28	chr12:50358000-50361000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:50358200-50361000	Weak transcription	Pancreas	Pancrea
30	chr12:50358800-50359600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:50359200-50359600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:50359400-50359600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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