Variant report

Variant	nsv7688
Chromosome Location	chr11:16912759-16939804
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:16924785..16927963-chr11:16940444..16943241,3	MCF-7	breast:
2	chr11:16931317..16933544-chr11:16934483..16936096,2	MCF-7	breast:
3	chr11:16913445..16915205-chr11:17097801..17099335,3	MCF-7	breast:
4	chr11:16915696..16917926-chr11:16944462..16946191,2	MCF-7	breast:
5	chr11:16939336..16941584-chr11:16944195..16948360,3	K562	blood:
6	chr11:16918607..16920232-chr8:87576439..87578551,2	MCF-7	breast:
7	chr11:16914888..16916923-chr11:16925227..16926853,2	MCF-7	breast:
8	chr11:16924323..16927213-chr11:16930206..16932852,3	K562	blood:
9	chr11:16912383..16915251-chr11:16918244..16921230,3	K562	blood:
10	chr11:16910866..16914588-chr11:16915188..16918653,3	MCF-7	breast:
11	chr11:16914888..16916923-chr11:16925227..16926853,2	MCF-7	breast:
12	chr11:16831644..16833328-chr11:16933413..16935147,2	MCF-7	breast:
13	chr11:16931317..16933544-chr11:16934483..16936096,2	MCF-7	breast:
14	chr11:16883507..16885093-chr11:16913908..16916539,2	MCF-7	breast:
15	chr11:16931101..16934600-chr11:16936301..16938112,4	K562	blood:
16	chr11:16914855..16917197-chr11:16922400..16924904,3	MCF-7	breast:
17	chr11:16924323..16927618-chr11:16930447..16932852,3	K562	blood:
18	chr11:16901136..16902901-chr11:16914387..16916198,2	K562	blood:
19	chr11:16912383..16915657-chr11:16918244..16920114,3	K562	blood:
20	chr11:16932846..16935000-chr11:16942811..16944331,2	MCF-7	breast:
21	chr11:16912383..16915657-chr11:16918244..16920114,3	K562	blood:
22	chr11:16924323..16927213-chr11:16930206..16932852,3	K562	blood:
23	chr11:16914855..16917197-chr11:16922400..16924904,3	MCF-7	breast:
24	chr11:16924323..16927618-chr11:16930447..16932852,3	K562	blood:
25	chr11:16938600..16942869-chr11:16945668..16948073,6	MCF-7	breast:
26	chr11:16910866..16914588-chr11:16915188..16918653,3	MCF-7	breast:
27	chr11:16912383..16915251-chr11:16918244..16921230,3	K562	blood:
28	chr11:16931101..16934600-chr11:16936301..16938112,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110700	chromatin interactions

Extended variants
information (count: 992 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:992 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149335425	chr11:16912788-16912789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544816030	chr11:16912810-16912811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563199874	chr11:16912858-16912859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34758240	chr11:16912863-16912864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs402838	chr11:16912867-16912868	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs117633391	chr11:16912871-16912872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369853882	chr11:16912891-16912892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144547494	chr11:16912892-16912893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188240971	chr11:16912914-16912915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551997543	chr11:16912946-16912947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs388968	chr11:16912986-16912987	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs115030755	chr11:16913027-16913028	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs549542773	chr11:16913040-16913041	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs75160295	chr11:16913059-16913060	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs535400972	chr11:16913071-16913072	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs113561541	chr11:16913093-16913094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113340886	chr11:16913119-16913120	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs566759456	chr11:16913124-16913125	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs61475718	chr11:16913134-16913135	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs574057528	chr11:16913138-16913139	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs143892771	chr11:16913198-16913199	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs180739695	chr11:16913206-16913207	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs35650226	chr11:16913265-16913266	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs115733494	chr11:16913286-16913287	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs10766354	chr11:16913292-16913293	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542163903	chr11:16913320-16913321	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs58542530	chr11:16913321-16913322	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs10766355	chr11:16913339-16913340	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545395274	chr11:16913341-16913342	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs538807914	chr11:16913444-16913445	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs147276852	chr11:16913496-16913497	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113062315	chr11:16913514-16913515	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140685099	chr11:16913522-16913523	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs72864090	chr11:16913533-16913534	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561756726	chr11:16913536-16913537	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529042849	chr11:16913588-16913589	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547415212	chr11:16913659-16913660	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565961467	chr11:16913699-16913700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533967028	chr11:16913708-16913709	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs185896606	chr11:16913811-16913812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs570822764	chr11:16913872-16913873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs192420647	chr11:16913928-16913929	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs180791643	chr11:16913950-16913951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556646402	chr11:16913973-16913974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs202152186	chr11:16913977-16913978	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200218322	chr11:16913978-16913979	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs201103219	chr11:16913979-16913980	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs199820686	chr11:16913980-16913981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs199738286	chr11:16913981-16913982	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs138538328	chr11:16913982-16913983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
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
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:666 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16903600-16914400	Weak transcription	Right Atrium	heart
2	chr11:16905200-16913600	Weak transcription	Gastric	stomach
3	chr11:16905200-16913600	Weak transcription	Pancreas	Pancrea
4	chr11:16910000-16913600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:16910000-16917800	Weak transcription	Lung	lung
6	chr11:16911200-16916000	Enhancers	Stomach Mucosa	stomach
7	chr11:16911600-16913000	Enhancers	Fetal Heart	heart
8	chr11:16911600-16914800	Weak transcription	Fetal Intestine Small	intestine
9	chr11:16912200-16914400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:16912200-16923600	Weak transcription	A549	lung
11	chr11:16912400-16914000	Enhancers	Placenta	Placenta
12	chr11:16912400-16919400	Weak transcription	Liver	Liver
13	chr11:16912600-16913400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:16912600-16914200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr11:16912600-16915600	Enhancers	NHDF-Ad	bronchial
16	chr11:16912600-16915800	Enhancers	HMEC	breast
17	chr11:16912600-16916000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:16912600-16916000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:16912800-16913000	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:16912800-16913600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:16912800-16913800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:16912800-16913800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:16912800-16914000	Enhancers	HSMMtube	muscle
24	chr11:16912800-16914000	Enhancers	NHEK	skin
25	chr11:16912800-16914600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr11:16912800-16915600	Enhancers	Osteobl	bone
27	chr11:16913000-16913200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr11:16913000-16913200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr11:16913000-16913600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:16913000-16913800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr11:16913000-16913800	Flanking Active TSS	Fetal Heart	heart
32	chr11:16913000-16914000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:16913000-16914000	Enhancers	HSMM	muscle
34	chr11:16913000-16914400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:16913000-16918400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:16913200-16913400	Enhancers	Duodenum Mucosa	Duodenum
37	chr11:16913200-16913600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:16913200-16913800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:16913200-16913800	Enhancers	Hela-S3	cervix
40	chr11:16913200-16914000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:16913200-16914600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:16913200-16914600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:16913400-16913600	Enhancers	Spleen	Spleen
44	chr11:16913400-16913800	Enhancers	Esophagus	oesophagus
45	chr11:16913400-16913800	Enhancers	NH-A	brain
46	chr11:16913400-16914000	Enhancers	Small Intestine	intestine
47	chr11:16913400-16916800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:16913600-16913800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:16913600-16913800	Enhancers	Adipose Nuclei	Adipose
50	chr11:16913600-16913800	Enhancers	Gastric	stomach

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