Variant report

Variant	rs12948731
Chromosome Location	chr17:37621361-37621362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37604313..37610125-chr17:37615155..37621784,15	MCF-7	breast:
2	chr17:37616556..37619121-chr17:37619599..37622081,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction
ENSG00000125686	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12941444	0.87[AFR][1000 genomes]
rs12950865	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
10	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37617200-37621400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:37617200-37621400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr17:37617200-37621800	Active TSS	NHLF	lung
4	chr17:37617200-37622000	Active TSS	GM12878-XiMat	blood
5	chr17:37617200-37622200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:37617200-37622200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr17:37617200-37622400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr17:37618200-37621400	Active TSS	Brain Germinal Matrix	brain
9	chr17:37618400-37621400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:37618800-37621600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr17:37618800-37621600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr17:37619000-37621400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr17:37619600-37621400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr17:37619600-37621800	Weak transcription	Small Intestine	intestine
15	chr17:37619600-37627200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:37619800-37621400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:37619800-37622000	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr17:37619800-37627200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:37619800-37649200	Weak transcription	Esophagus	oesophagus
20	chr17:37620200-37621600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr17:37620200-37622000	Enhancers	Placenta	Placenta
22	chr17:37620200-37622000	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr17:37620200-37622200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr17:37620200-37622400	Enhancers	Spleen	Spleen
25	chr17:37620200-37622600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:37620200-37627200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr17:37620400-37621600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:37620400-37621600	Active TSS	Hela-S3	cervix
29	chr17:37620400-37622000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr17:37620400-37622200	Enhancers	Fetal Brain Male	brain
31	chr17:37620400-37622200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr17:37620400-37622200	Active TSS	K562	blood
33	chr17:37620400-37627400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr17:37620400-37650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr17:37620600-37621400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr17:37620600-37621800	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr17:37620600-37621800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr17:37620600-37621800	Enhancers	NH-A	brain
39	chr17:37620600-37622000	Enhancers	Primary B cells from cord blood	blood
40	chr17:37620600-37622000	Genic enhancers	Fetal Thymus	thymus
41	chr17:37620600-37622000	Enhancers	Lung	lung
42	chr17:37620600-37622000	Enhancers	Pancreas	Pancrea
43	chr17:37620600-37622200	Enhancers	Brain Cingulate Gyrus	brain
44	chr17:37620600-37622400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr17:37620600-37622400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr17:37620600-37623600	Weak transcription	Fetal Heart	heart
47	chr17:37620600-37625400	Weak transcription	NHDF-Ad	bronchial
48	chr17:37620800-37621400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
49	chr17:37620800-37621600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr17:37620800-37622000	Enhancers	Cortex derived primary cultured neurospheres	brain

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