Variant report

Variant	nsv975830
Chromosome Location	chr11:8867561-8873550
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 198 )
Associated
traits (count: 63 )

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	rs374878157	chr11:8867576-8867577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567185326	chr11:8867598-8867599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557247320	chr11:8867637-8867638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577374603	chr11:8867656-8867657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs539511076	chr11:8867714-8867715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553638559	chr11:8867772-8867773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369045344	chr11:8867773-8867774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs573421748	chr11:8867780-8867781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570335222	chr11:8867784-8867785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148548174	chr11:8867818-8867819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562099627	chr11:8867839-8867840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574751831	chr11:8867875-8867876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543703298	chr11:8867890-8867891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563297731	chr11:8867909-8867910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532322552	chr11:8867960-8867961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534332967	chr11:8867965-8867966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142895734	chr11:8867978-8867979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs538914194	chr11:8867979-8867980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs151060827	chr11:8868027-8868028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559127208	chr11:8868074-8868075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542334126	chr11:8868097-8868098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371338834	chr11:8868168-8868169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376847527	chr11:8868169-8868170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551266365	chr11:8868283-8868284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566106112	chr11:8868315-8868316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193228512	chr11:8868331-8868332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140749379	chr11:8868406-8868407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540021457	chr11:8868428-8868429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553321970	chr11:8868490-8868491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144595992	chr11:8868504-8868505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147209649	chr11:8868520-8868521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535970711	chr11:8868567-8868568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185554715	chr11:8868639-8868640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs575716632	chr11:8868643-8868644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147869059	chr11:8868657-8868658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557215398	chr11:8868717-8868718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115651417	chr11:8868744-8868745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545962965	chr11:8868781-8868782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559137975	chr11:8868797-8868798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575687855	chr11:8868805-8868806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541529195	chr11:8868863-8868864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552523741	chr11:8868926-8868927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544589578	chr11:8868955-8868956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564820268	chr11:8868997-8868998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141454114	chr11:8869072-8869073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554223042	chr11:8869122-8869123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10743093	chr11:8869129-8869130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs533493032	chr11:8869245-8869246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189285679	chr11:8869246-8869247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567093154	chr11:8869265-8869266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Dysmorphic features	22052655	CNVD
Intellectual disability	22052655	CNVD
Obesity	22052655	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8862200-8881200	Weak transcription	Hela-S3	cervix
2	chr11:8862400-8867800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:8862400-8867800	Weak transcription	Ovary	ovary
4	chr11:8862400-8868000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:8862400-8868000	Weak transcription	Left Ventricle	heart
6	chr11:8862400-8870600	Weak transcription	Placenta	Placenta
7	chr11:8862400-8874600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:8862400-8880000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:8862400-8880000	Weak transcription	Spleen	Spleen
10	chr11:8862400-8885000	Weak transcription	NHLF	lung
11	chr11:8862400-8888400	Weak transcription	Right Atrium	heart
12	chr11:8862600-8867800	Weak transcription	Brain Substantia Nigra	brain
13	chr11:8862600-8868400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:8862600-8868800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:8862600-8876600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:8862600-8885200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:8863200-8890400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:8864000-8872200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:8864000-8888000	Weak transcription	Fetal Intestine Small	intestine
20	chr11:8865400-8867600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:8865400-8873600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:8865600-8867600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:8865800-8867600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:8865800-8886000	Weak transcription	Fetal Stomach	stomach
25	chr11:8866000-8874200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:8867000-8867600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:8867000-8867800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:8867000-8867800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:8867200-8867600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:8867400-8867600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr11:8867400-8873400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:8867600-8867800	Enhancers	Stomach Smooth Muscle	stomach
33	chr11:8867600-8868400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:8867600-8868800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:8867600-8869000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:8867600-8870000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:8867600-8872000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:8867800-8868000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:8867800-8868000	Enhancers	Brain Substantia Nigra	brain
40	chr11:8867800-8868200	Enhancers	Ovary	ovary
41	chr11:8867800-8872200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr11:8868000-8868800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:8868200-8876200	Weak transcription	Ovary	ovary
44	chr11:8868400-8868600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:8868800-8869200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr11:8868800-8877000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:8869000-8869600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr11:8870600-8871000	Enhancers	Placenta	Placenta
49	chr11:8871000-8873400	Weak transcription	Placenta	Placenta
50	chr11:8871000-8877000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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