Variant report

Variant	esv3377711
Chromosome Location	chr9:140562323-140565089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140513432..140515726-chr9:140563300..140565570,3	MCF-7	breast:
2	chr9:140478738..140480572-chr9:140563857..140565636,2	MCF-7	breast:
3	chr9:140484072..140485804-chr9:140563886..140566871,2	K562	blood:
4	chr9:140556948..140560022-chr9:140562318..140565265,4	K562	blood:
5	chr9:140497340..140502310-chr9:140563850..140568927,6	K562	blood:
6	chr9:140563812..140566450-chr9:140570445..140574038,3	K562	blood:
7	chr9:140563248..140567111-chr9:140567384..140570139,4	K562	blood:
8	chr9:140511684..140515922-chr9:140563311..140567576,10	MCF-7	breast:
9	chr9:140504074..140505804-chr9:140564024..140565554,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000203993	chromatin interactions
ENSG00000181090	chromatin interactions
ENSG00000197070	chromatin interactions
ENSG00000165724	chromatin interactions

Extended variants
information (count: 163 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374771622	chr9:140562324-140562325	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565317288	chr9:140562339-140562340	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540290357	chr9:140562340-140562341	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs554164244	chr9:140562371-140562372	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs577151926	chr9:140562389-140562390	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs546514585	chr9:140562501-140562502	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565764119	chr9:140562531-140562532	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs11137173	chr9:140562536-140562537	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs368946405	chr9:140562566-140562567	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs569416327	chr9:140562580-140562581	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs190228603	chr9:140562602-140562603	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372974800	chr9:140562605-140562606	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541975844	chr9:140562611-140562612	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs372697568	chr9:140562642-140562643	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs551500221	chr9:140562722-140562723	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs114350869	chr9:140562748-140562749	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs151090766	chr9:140562762-140562763	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs546364621	chr9:140562777-140562778	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs560136695	chr9:140562782-140562783	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs571660055	chr9:140562870-140562871	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532010051	chr9:140562909-140562910	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12551105	chr9:140562948-140562949	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs181435187	chr9:140562968-140562969	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112877302	chr9:140562978-140562979	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111862925	chr9:140563033-140563034	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538053386	chr9:140563048-140563049	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548377037	chr9:140563072-140563073	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141030233	chr9:140563074-140563075	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150223958	chr9:140563092-140563093	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553964093	chr9:140563105-140563106	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185409415	chr9:140563126-140563127	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539399601	chr9:140563143-140563144	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188269217	chr9:140563151-140563152	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576302770	chr9:140563152-140563153	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs180735182	chr9:140563185-140563186	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34070687	chr9:140563186-140563187	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs398012610	chr9:140563196-140563197	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs71493688	chr9:140563197-140563198	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562342409	chr9:140563222-140563223	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572540356	chr9:140563251-140563252	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113810007	chr9:140563259-140563260	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573765840	chr9:140563274-140563275	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138899989	chr9:140563301-140563302	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs537202528	chr9:140563303-140563304	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs540371223	chr9:140563312-140563313	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs111291403	chr9:140563335-140563336	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs186323227	chr9:140563336-140563337	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs138817432	chr9:140563346-140563347	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs573966232	chr9:140563348-140563349	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs532142797	chr9:140563354-140563355	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:413 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140523400-140563400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr9:140527600-140563800	Weak transcription	Aorta	Aorta
3	chr9:140531000-140564800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr9:140534400-140563400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr9:140534600-140572600	Weak transcription	Small Intestine	intestine
6	chr9:140540200-140564800	Weak transcription	HMEC	breast
7	chr9:140543600-140564800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:140548400-140567600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:140550400-140563400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr9:140555000-140571200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr9:140556200-140563800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:140557400-140562800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr9:140557400-140563000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:140557600-140564200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr9:140557800-140562800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr9:140558400-140565000	Weak transcription	HSMM	muscle
17	chr9:140558400-140566600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr9:140558800-140562600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr9:140559000-140564400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr9:140559200-140563000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:140559400-140562600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:140559400-140562600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr9:140559600-140562600	Enhancers	Primary T cells from cord blood	blood
24	chr9:140559600-140563600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr9:140559600-140567600	Weak transcription	Osteobl	bone
26	chr9:140559800-140563600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:140560000-140562800	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr9:140560000-140562800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr9:140560000-140563600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr9:140560000-140563600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr9:140560200-140562600	Enhancers	Ovary	ovary
32	chr9:140560200-140562800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr9:140560400-140562600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr9:140560400-140562800	Enhancers	Primary hematopoietic stem cells	blood
35	chr9:140560600-140562600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr9:140560600-140562600	Enhancers	Right Atrium	heart
37	chr9:140560800-140562600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:140560800-140562600	Enhancers	Fetal Thymus	thymus
39	chr9:140560800-140562600	Enhancers	K562	blood
40	chr9:140560800-140563600	Enhancers	Fetal Brain Male	brain
41	chr9:140560800-140564200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr9:140560800-140566800	Weak transcription	NHEK	skin
43	chr9:140560800-140567400	Weak transcription	NHDF-Ad	bronchial
44	chr9:140561000-140562800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr9:140561000-140563200	Weak transcription	Thymus	Thymus
46	chr9:140561000-140563600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:140561000-140564200	Weak transcription	HepG2	liver
48	chr9:140561000-140564800	Weak transcription	Psoas Muscle	Psoas
49	chr9:140561200-140563600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:140561200-140563600	Weak transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links