Variant report

Variant	nsv971985
Chromosome Location	chr11:9330461-9333340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:9332635-9333711	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:9332727-9332735	K562	blood:	n/a	n/a
3	POLR2A	chr11:9332497-9332825	Hela-S3	cervix:	n/a	n/a
4	YY1	chr11:9332233-9332399	K562	blood:	n/a	chr11:9332320-9332328 chr11:9332316-9332332 chr11:9332321-9332331
5	ZNF384	chr11:9332074-9332420	GM12878	blood:	n/a	n/a
6	ZNF384	chr11:9332005-9332450	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:9329616..9332510-chr11:9482010..9484276,2	K562	blood:
2	chr11:9328690..9334073-chr11:9404480..9408917,7	K562	blood:
3	chr11:9326826..9328669-chr11:9330694..9332491,2	K562	blood:
4	chr11:9328102..9338305-chr11:9404480..9412498,38	K562	blood:
5	chr11:9333302..9335667-chr11:9353221..9354766,2	K562	blood:
6	chr11:9328481..9330937-chr11:9481410..9482943,2	MCF-7	breast:
7	chr11:9283945..9288774-chr11:9332278..9339081,12	K562	blood:
8	chr11:8985177..8988020-chr11:9331940..9333549,2	K562	blood:
9	chr11:9323308..9325382-chr11:9329913..9332100,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254884	TF binding region
ENSG00000254860	chromatin interactions
ENSG00000166478	chromatin interactions
ENSG00000175348	chromatin interactions
ENSG00000205339	chromatin interactions
ENSG00000268403	chromatin interactions
ENSG00000184014	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559103891	chr11:9330465-9330466	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs572772053	chr11:9330470-9330471	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs76089659	chr11:9330477-9330478	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs558785348	chr11:9330480-9330481	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs572308750	chr11:9330515-9330516	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs534862241	chr11:9330521-9330522	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs375251569	chr11:9330566-9330567	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs554781542	chr11:9330657-9330658	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs574913747	chr11:9330662-9330663	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs116271455	chr11:9330699-9330700	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs181320626	chr11:9330701-9330702	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs374003988	chr11:9330709-9330710	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs373133755	chr11:9330712-9330713	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs137999903	chr11:9330720-9330721	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs575701690	chr11:9330748-9330749	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs374540564	chr11:9330754-9330755	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs527503481	chr11:9330783-9330784	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs376396162	chr11:9330792-9330793	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs201786811	chr11:9330793-9330794	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs397769438	chr11:9330801-9330802	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs397800531	chr11:9330802-9330803	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs185694598	chr11:9330813-9330814	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs561142136	chr11:9330843-9330844	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs560909346	chr11:9330892-9330893	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs529825028	chr11:9330910-9330911	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs72850528	chr11:9330948-9330949	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569643335	chr11:9330985-9330986	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs190503776	chr11:9331000-9331001	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs201867881	chr11:9331076-9331077	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs72850531	chr11:9331102-9331103	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs112518833	chr11:9331125-9331126	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs75895557	chr11:9331175-9331176	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs555174824	chr11:9331233-9331234	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs568561016	chr11:9331262-9331263	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs537594155	chr11:9331285-9331286	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs543091288	chr11:9331337-9331338	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs562341938	chr11:9331372-9331373	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs7131004	chr11:9331398-9331399	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs7946475	chr11:9331424-9331425	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs7952112	chr11:9331427-9331428	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs558904313	chr11:9331442-9331443	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs572402852	chr11:9331447-9331448	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs574142518	chr11:9331531-9331532	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs183734080	chr11:9331534-9331535	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs529839981	chr11:9331585-9331586	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs144633285	chr11:9331588-9331589	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs200055172	chr11:9331591-9331592	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs532510840	chr11:9331594-9331595	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs538300653	chr11:9331629-9331630	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs374605572	chr11:9331651-9331652	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:194 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9287400-9332600	Weak transcription	HMEC	breast
2	chr11:9287400-9333000	Weak transcription	Gastric	stomach
3	chr11:9287800-9333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:9296600-9332600	Weak transcription	Right Ventricle	heart
5	chr11:9296600-9333000	Weak transcription	Psoas Muscle	Psoas
6	chr11:9296600-9334800	Weak transcription	Aorta	Aorta
7	chr11:9296800-9332800	Weak transcription	Brain Angular Gyrus	brain
8	chr11:9296800-9333200	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:9296800-9333200	Weak transcription	Ovary	ovary
10	chr11:9302600-9332600	Weak transcription	Esophagus	oesophagus
11	chr11:9302600-9333200	Weak transcription	Spleen	Spleen
12	chr11:9302600-9333400	Weak transcription	Fetal Brain Female	brain
13	chr11:9302600-9333600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:9302600-9334600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:9302600-9334800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:9302800-9334600	Weak transcription	NH-A	brain
17	chr11:9303200-9332000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:9303200-9333000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:9303400-9334000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:9305800-9332800	Weak transcription	NHDF-Ad	bronchial
21	chr11:9306000-9332600	Weak transcription	Brain Germinal Matrix	brain
22	chr11:9308200-9332600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:9308200-9334800	Weak transcription	Primary B cells from cord blood	blood
24	chr11:9309400-9333800	Weak transcription	Adipose Nuclei	Adipose
25	chr11:9312000-9331800	Weak transcription	HepG2	liver
26	chr11:9312600-9333200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:9312600-9334600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:9316400-9332600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:9317000-9334800	Weak transcription	Placenta	Placenta
30	chr11:9318800-9332600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:9318800-9333200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr11:9319600-9332600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:9319600-9332600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:9319600-9333800	Weak transcription	NHLF	lung
35	chr11:9319800-9332600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:9319800-9333800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr11:9319800-9334800	Weak transcription	Fetal Intestine Large	intestine
38	chr11:9320200-9332600	Weak transcription	Thymus	Thymus
39	chr11:9320200-9333800	Weak transcription	Right Atrium	heart
40	chr11:9320400-9333000	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr11:9320400-9333800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:9320600-9332600	Weak transcription	NHEK	skin
43	chr11:9320600-9333000	Weak transcription	Stomach Mucosa	stomach
44	chr11:9320600-9333800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:9320600-9334600	Weak transcription	HSMMtube	muscle
46	chr11:9320600-9334800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:9320800-9333200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:9320800-9333400	Weak transcription	Fetal Lung	lung
49	chr11:9321000-9333600	Weak transcription	Small Intestine	intestine
50	chr11:9321200-9332400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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