Variant report

Variant	rs531182018
Chromosome Location	chr9:22005293-22005294
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:22003176..22005515-chr9:22097864..22100097,2	MCF-7	breast:
2	chr9:22003592..22005818-chr9:22239083..22240944,2	MCF-7	breast:
3	chr9:22001905..22005443-chr9:22006837..22010550,5	MCF-7	breast:
4	chr9:22003045..22005596-chr9:22081928..22084835,3	MCF-7	breast:
5	chr9:22003003..22006002-chr9:22110995..22113643,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147883	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529609	chr9:21708371-22537069	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv8426	chr9:21763810-22176200	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv892745	chr9:21857244-22006273	Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv1821117	chr9:21933029-22012229	Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1018514	chr9:21944275-22075326	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv892746	chr9:21953137-22028801	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv3492902	chr9:21971026-22006145	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv3492901	chr9:21971095-22006263	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv892747	chr9:21984661-22068646	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv531617	chr9:21985057-22809676	Genic enhancers Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv824877	chr9:22005194-22005666	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21995800-22008400	Weak transcription	Aorta	Aorta
2	chr9:21996200-22005600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:21996400-22007800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr9:22003000-22005800	Strong transcription	HSMM	muscle
5	chr9:22003800-22006800	Transcr. at gene 5' and 3'	NH-A	brain
6	chr9:22004200-22006400	Bivalent Enhancer	Primary B cells from cord blood	blood
7	chr9:22004400-22005600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:22004400-22006000	Strong transcription	Muscle Satellite Cultured Cells	--
9	chr9:22004600-22005400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:22004800-22005600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:22004800-22005600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
12	chr9:22004800-22005600	Bivalent Enhancer	GM12878-XiMat	blood
13	chr9:22004800-22006400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
14	chr9:22004800-22006600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:22005000-22005400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr9:22005000-22005400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:22005000-22005400	Transcr. at gene 5' and 3'	NHEK	skin
18	chr9:22005000-22005600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
19	chr9:22005000-22005800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr9:22005000-22005800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:22005000-22005800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:22005000-22005800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:22005000-22006000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
24	chr9:22005000-22006000	ZNF genes & repeats	Esophagus	oesophagus
25	chr9:22005000-22006200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
26	chr9:22005000-22006200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:22005000-22006400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr9:22005000-22006400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr9:22005000-22006400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr9:22005000-22006400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr9:22005000-22006400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:22005000-22006400	Transcr. at gene 5' and 3'	HSMMtube	muscle
33	chr9:22005000-22006600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
34	chr9:22005000-22006600	Transcr. at gene 5' and 3'	Hela-S3	cervix
35	chr9:22005000-22008400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
36	chr9:22005200-22005400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr9:22005200-22005400	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:22005200-22005400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
39	chr9:22005200-22005400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:22005200-22005400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
41	chr9:22005200-22005400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:22005200-22005400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:22005200-22005400	Bivalent/Poised TSS	Colonic Mucosa	Colon
44	chr9:22005200-22005400	Bivalent Enhancer	Fetal Thymus	thymus
45	chr9:22005200-22005400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
46	chr9:22005200-22005400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr9:22005200-22005400	Flanking Active TSS	Dnd41	blood
48	chr9:22005200-22005600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:22005200-22005600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
50	chr9:22005200-22005600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain

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