Variant report

Variant	nsv982935
Chromosome Location	chr11:35036919-35042571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35039282..35042124-chr11:35049320..35051716,2	MCF-7	breast:
2	chr11:35038263..35041721-chr11:35159851..35162201,3	MCF-7	breast:
3	chr11:35023109..35024756-chr11:35037668..35039573,2	K562	blood:
4	chr11:35039461..35041795-chr11:35050641..35052600,2	K562	blood:
5	chr11:35020698..35022815-chr11:35039638..35042046,2	K562	blood:

Variant related genes	Relation type
ENSG00000026508	chromatin interactions

Extended variants
information (count: 198 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:198 , 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	rs185835638	chr11:35036936-35036937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568520329	chr11:35036995-35036996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149554441	chr11:35037028-35037029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537669745	chr11:35037070-35037071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191099250	chr11:35037073-35037074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183812611	chr11:35037100-35037101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376060656	chr11:35037147-35037148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187877881	chr11:35037149-35037150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552945235	chr11:35037197-35037198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2732528	chr11:35037211-35037212	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs143296926	chr11:35037228-35037229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190500064	chr11:35037267-35037268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529226257	chr11:35037270-35037271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574518773	chr11:35037310-35037311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374799625	chr11:35037317-35037318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183029388	chr11:35037336-35037337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563507885	chr11:35037341-35037342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372567934	chr11:35037353-35037354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564175668	chr11:35037356-35037357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531631337	chr11:35037360-35037361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532234130	chr11:35037374-35037375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78528891	chr11:35037375-35037376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559346509	chr11:35037382-35037383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528098651	chr11:35037385-35037386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548566938	chr11:35037418-35037419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568760733	chr11:35037464-35037465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2553806	chr11:35037483-35037484	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs561968020	chr11:35037519-35037520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187412054	chr11:35037578-35037579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191495095	chr11:35037583-35037584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs539499477	chr11:35037588-35037589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78424697	chr11:35037648-35037649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566492114	chr11:35037693-35037694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184977809	chr11:35037703-35037704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555505206	chr11:35037749-35037750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574659868	chr11:35037759-35037760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373404939	chr11:35037889-35037890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548305210	chr11:35037895-35037896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557191718	chr11:35037955-35037956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577115785	chr11:35037992-35037993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs115616272	chr11:35037994-35037995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148313920	chr11:35037995-35037996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369789646	chr11:35038063-35038064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117429128	chr11:35038065-35038066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541790226	chr11:35038067-35038068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561564676	chr11:35038070-35038071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531228060	chr11:35038085-35038086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187544615	chr11:35038108-35038109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564297344	chr11:35038156-35038157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141522983	chr11:35038177-35038178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35028400-35039600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:35028600-35051600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:35030000-35037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:35032200-35037600	Weak transcription	Fetal Intestine Large	intestine
5	chr11:35032800-35037800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:35033000-35039200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:35033000-35039200	Weak transcription	HepG2	liver
8	chr11:35033000-35039400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:35033200-35037000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr11:35033200-35043400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:35033600-35051200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:35034800-35037200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:35035400-35037200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr11:35035400-35039400	Weak transcription	Pancreas	Pancrea
15	chr11:35035600-35039200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:35035800-35037600	Weak transcription	Stomach Mucosa	stomach
17	chr11:35036000-35037200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:35036000-35037800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:35036000-35038000	Enhancers	NHDF-Ad	bronchial
20	chr11:35036000-35038400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:35036000-35038600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:35036000-35039000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:35036200-35037200	Weak transcription	Primary T cells from cord blood	blood
24	chr11:35036200-35037200	Weak transcription	Fetal Lung	lung
25	chr11:35036200-35039200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:35036200-35041800	Weak transcription	Spleen	Spleen
27	chr11:35036200-35043000	Weak transcription	HSMMtube	muscle
28	chr11:35036400-35039000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:35036600-35037000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:35036600-35037000	Weak transcription	Fetal Stomach	stomach
31	chr11:35036600-35037200	Enhancers	Fetal Muscle Leg	muscle
32	chr11:35036600-35039200	Weak transcription	Osteobl	bone
33	chr11:35037000-35037200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:35037000-35037200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:35037000-35037200	Enhancers	Fetal Stomach	stomach
36	chr11:35037200-35037400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr11:35037200-35037600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:35037200-35038000	Weak transcription	Fetal Stomach	stomach
39	chr11:35037200-35039400	Enhancers	Fetal Lung	lung
40	chr11:35037200-35051600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:35037400-35037600	Enhancers	Primary T cells from cord blood	blood
42	chr11:35037400-35038000	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:35037400-35038600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:35037600-35037800	Enhancers	Fetal Intestine Large	intestine
45	chr11:35037600-35037800	Enhancers	Fetal Intestine Small	intestine
46	chr11:35037600-35038000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:35037600-35038800	Enhancers	Stomach Mucosa	stomach
48	chr11:35037800-35038000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:35037800-35038000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr11:35038000-35038400	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links