Variant report

Variant	nsv976512
Chromosome Location	chr11:36649363-36653482
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36649743..36651991-chr11:36654545..36656846,2	MCF-7	breast:

Extended variants
information (count: 146 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116649983	chr11:36649363-36649364	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs188790884	chr11:36649392-36649393	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532598993	chr11:36649426-36649427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181256013	chr11:36649462-36649463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566387437	chr11:36649463-36649464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145273942	chr11:36649500-36649501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs16929216	chr11:36649551-36649552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs117469410	chr11:36649554-36649555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567701214	chr11:36649560-36649561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147467468	chr11:36649604-36649605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs377715868	chr11:36649624-36649625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556684285	chr11:36649638-36649639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576382711	chr11:36649689-36649690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539054593	chr11:36649692-36649693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139867186	chr11:36649722-36649723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572824080	chr11:36649723-36649724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541787384	chr11:36649766-36649767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74886050	chr11:36649792-36649793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561906562	chr11:36649859-36649860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575391228	chr11:36649886-36649887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543896607	chr11:36649919-36649920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185573766	chr11:36649954-36649955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116420739	chr11:36649975-36649976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552623356	chr11:36649983-36649984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189771388	chr11:36649986-36649987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371405091	chr11:36650034-36650035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533742951	chr11:36650037-36650038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs117874519	chr11:36650062-36650063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564538952	chr11:36650101-36650102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548639309	chr11:36650142-36650143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570629021	chr11:36650145-36650146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576441668	chr11:36650160-36650161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs11821254	chr11:36650184-36650185	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537249898	chr11:36650187-36650188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532010604	chr11:36650229-36650230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11033724	chr11:36650253-36650254	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs181030133	chr11:36650261-36650262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531084932	chr11:36650266-36650267	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372066528	chr11:36650283-36650284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11033725	chr11:36650357-36650358	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186062098	chr11:36650367-36650368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567889349	chr11:36650498-36650499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150016830	chr11:36650548-36650549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373710878	chr11:36650567-36650568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555425085	chr11:36650574-36650575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377332915	chr11:36650632-36650633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191972008	chr11:36650633-36650634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563739967	chr11:36650636-36650637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535118057	chr11:36650645-36650646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35108332	chr11:36650653-36650654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
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
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36616600-36657000	Weak transcription	Left Ventricle	heart
2	chr11:36630000-36678800	Weak transcription	Brain Angular Gyrus	brain
3	chr11:36630600-36661000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr11:36630600-36682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr11:36633600-36656000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr11:36640600-36649800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:36640800-36669400	Weak transcription	Aorta	Aorta
8	chr11:36641400-36650200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:36641400-36650600	Weak transcription	Right Ventricle	heart
10	chr11:36641400-36652600	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:36641400-36669400	Weak transcription	Adipose Nuclei	Adipose
12	chr11:36641400-36669600	Weak transcription	Ovary	ovary
13	chr11:36641400-36681000	Weak transcription	Primary T cells from cord blood	blood
14	chr11:36641600-36653000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr11:36641600-36660400	Weak transcription	Fetal Stomach	stomach
16	chr11:36642000-36650200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:36642000-36655000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:36642000-36655200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:36642000-36681000	Weak transcription	Fetal Kidney	kidney
20	chr11:36642200-36649600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:36642200-36650000	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:36642200-36669600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:36646000-36652600	Enhancers	Dnd41	blood
24	chr11:36646400-36677000	Weak transcription	Lung	lung
25	chr11:36647200-36650600	Enhancers	Thymus	Thymus
26	chr11:36647600-36661200	Weak transcription	Pancreas	Pancrea
27	chr11:36648000-36649400	Enhancers	HSMM	muscle
28	chr11:36648600-36653600	Enhancers	Fetal Thymus	thymus
29	chr11:36648600-36661000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr11:36648600-36681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:36648800-36649400	Active TSS	Sigmoid Colon	Sigmoid Colon
32	chr11:36648800-36680600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:36649000-36649400	Enhancers	Fetal Muscle Leg	muscle
34	chr11:36649200-36650400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:36649200-36651000	Enhancers	HSMMtube	muscle
36	chr11:36649200-36656600	Weak transcription	Fetal Heart	heart
37	chr11:36649400-36650400	Weak transcription	HSMM	muscle
38	chr11:36649400-36669400	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:36649600-36649800	Weak transcription	Psoas Muscle	Psoas
40	chr11:36649600-36650000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:36649800-36650800	Enhancers	Psoas Muscle	Psoas
42	chr11:36650000-36653600	Enhancers	Colon Smooth Muscle	Colon
43	chr11:36650000-36656000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:36650200-36650800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:36650200-36651000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:36650200-36651200	Enhancers	Rectal Smooth Muscle	rectum
47	chr11:36650400-36650600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr11:36650400-36650600	Enhancers	HSMM	muscle
49	chr11:36650400-36650800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:36650400-36650800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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