Variant report

Variant	rs185517704
Chromosome Location	chr8:131371720-131371721
allele	A/C
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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131369400-131371800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:131369400-131371800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:131369600-131371800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:131369600-131371800	Active TSS	Fetal Kidney	kidney
5	chr8:131370000-131371800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:131370000-131371800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr8:131370000-131371800	Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr8:131370000-131371800	Active TSS	Rectal Smooth Muscle	rectum
9	chr8:131370400-131371800	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr8:131371200-131371800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr8:131371200-131371800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr8:131371200-131371800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr8:131371200-131371800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:131371200-131371800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:131371200-131371800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:131371200-131371800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:131371200-131371800	Flanking Active TSS	Fetal Brain Female	brain
18	chr8:131371200-131371800	Flanking Active TSS	Thymus	Thymus
19	chr8:131371200-131371800	Flanking Active TSS	Dnd41	blood
20	chr8:131371200-131371800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr8:131371200-131372000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr8:131371200-131372600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:131371400-131371800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:131371400-131371800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:131371400-131371800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr8:131371400-131371800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr8:131371400-131371800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr8:131371400-131371800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr8:131371400-131371800	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr8:131371400-131371800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr8:131371400-131371800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr8:131371400-131371800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr8:131371400-131371800	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr8:131371400-131371800	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr8:131371400-131371800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:131371400-131371800	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr8:131371400-131371800	Enhancers	Left Ventricle	heart
38	chr8:131371400-131371800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr8:131371400-131371800	Flanking Active TSS	GM12878-XiMat	blood
40	chr8:131371400-131371800	Flanking Active TSS	K562	blood
41	chr8:131371400-131372000	Enhancers	Fetal Brain Male	brain
42	chr8:131371400-131372200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:131371400-131372600	Enhancers	Fetal Heart	heart
44	chr8:131371400-131374000	Weak transcription	Small Intestine	intestine
45	chr8:131371400-131374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr8:131371400-131376000	Weak transcription	HMEC	breast
47	chr8:131371400-131376400	Weak transcription	Hela-S3	cervix
48	chr8:131371400-131376600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:131371400-131376800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr8:131371400-131382000	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links