Variant report

Variant	rs188728110
Chromosome Location	chr8:131371817-131371818
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:131371033..131372653-chr8:131376514..131378216,2	MCF-7	breast:
2	chr8:131370636..131372390-chr8:131374796..131377434,2	K562	blood:
3	chr8:131370668..131373008-chr8:131383412..131385396,2	K562	blood:
4	chr8:131322070..131324327-chr8:131371483..131374194,2	K562	blood:
5	chr8:131370791..131374454-chr8:131375102..131378755,4	MCF-7	breast:
6	chr8:131352326..131356339-chr8:131369333..131373155,5	K562	blood:
7	chr8:131369806..131373851-chr8:131400186..131403048,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153317	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv870148	chr8:131206342-131373989	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3324422	chr8:131369595-131372143	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3344755	chr8:131369820-131371918	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv612289	chr8:131370231-131373653	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv1799913	chr8:131370231-131377219	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1803345	chr8:131370231-131377219	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv612290	chr8:131370231-131381098	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131371200-131372000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr8:131371200-131372600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:131371400-131372000	Enhancers	Fetal Brain Male	brain
4	chr8:131371400-131372200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:131371400-131372600	Enhancers	Fetal Heart	heart
6	chr8:131371400-131374000	Weak transcription	Small Intestine	intestine
7	chr8:131371400-131374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:131371400-131376000	Weak transcription	HMEC	breast
9	chr8:131371400-131376400	Weak transcription	Hela-S3	cervix
10	chr8:131371400-131376600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:131371400-131376800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:131371400-131382000	Weak transcription	Lung	lung
13	chr8:131371400-131391400	Weak transcription	Spleen	Spleen
14	chr8:131371600-131372000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr8:131371600-131372000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:131371600-131372000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:131371600-131372000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:131371600-131372000	Enhancers	Fetal Muscle Leg	muscle
19	chr8:131371600-131372200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:131371600-131372200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:131371600-131372200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:131371600-131372200	Weak transcription	HUVEC	blood vessel
23	chr8:131371600-131372400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:131371600-131372400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr8:131371600-131372400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr8:131371600-131372600	Weak transcription	HSMM	muscle
27	chr8:131371600-131372600	Weak transcription	NHEK	skin
28	chr8:131371600-131372600	Weak transcription	Osteobl	bone
29	chr8:131371600-131372800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:131371600-131372800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:131371600-131372800	Weak transcription	Placenta	Placenta
32	chr8:131371600-131373000	Weak transcription	NHDF-Ad	bronchial
33	chr8:131371600-131373000	Weak transcription	NHLF	lung
34	chr8:131371600-131373200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:131371600-131373400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:131371600-131373400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:131371600-131374000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:131371600-131374000	Weak transcription	Pancreas	Pancrea
39	chr8:131371600-131374200	Enhancers	Fetal Thymus	thymus
40	chr8:131371600-131374200	Weak transcription	HSMMtube	muscle
41	chr8:131371600-131378600	Weak transcription	Psoas Muscle	Psoas
42	chr8:131371600-131383800	Weak transcription	Ovary	ovary
43	chr8:131371600-131386800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:131371600-131389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr8:131371600-131419800	Weak transcription	Aorta	Aorta
46	chr8:131371800-131372000	Enhancers	Primary T cells from cord blood	blood
47	chr8:131371800-131372000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr8:131371800-131372000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:131371800-131372000	Enhancers	Dnd41	blood
50	chr8:131371800-131372200	Enhancers	K562	blood

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