Variant report

Variant	nsv982982
Chromosome Location	chr11:9450348-9452590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:9445134..9447158-chr11:9449371..9452309,2	K562	blood:
2	chr11:9443893..9446629-chr11:9448948..9451710,3	MCF-7	breast:
3	chr11:9447701..9450572-chr11:9481621..9483172,2	MCF-7	breast:
4	chr11:9451258..9454317-chr11:9478650..9481134,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM41B-2	chr11:9451903-9452151	ENSG00000254397.1

Variant related genes	Relation type
ENSG00000205339	chromatin interactions
ENSG00000268403	chromatin interactions
ENSG00000166478	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570604583	chr11:9450358-9450359	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs539625364	chr11:9450361-9450362	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs2290423	chr11:9450377-9450378	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs376230087	chr11:9450411-9450412	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs541839778	chr11:9450414-9450415	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs201202081	chr11:9450416-9450417	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs201676714	chr11:9450469-9450470	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs562416879	chr11:9450480-9450481	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs373923953	chr11:9450527-9450528	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs149505380	chr11:9450530-9450531	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs200667064	chr11:9450565-9450566	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs199950952	chr11:9450611-9450612	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144565474	chr11:9450669-9450670	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201096585	chr11:9450703-9450704	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs570972581	chr11:9450712-9450713	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs199557339	chr11:9450722-9450723	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs143999427	chr11:9450725-9450726	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546799167	chr11:9450767-9450768	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs202227683	chr11:9450776-9450777	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs201811941	chr11:9450788-9450789	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs376481223	chr11:9450790-9450791	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs548960762	chr11:9450799-9450800	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs568041111	chr11:9450811-9450812	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536930489	chr11:9450842-9450843	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557184453	chr11:9450894-9450895	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375076169	chr11:9450970-9450971	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113205828	chr11:9450977-9450978	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs535097739	chr11:9450980-9450981	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs576983711	chr11:9450989-9450990	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539582150	chr11:9451002-9451003	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147276812	chr11:9451058-9451059	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552835565	chr11:9451074-9451075	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs55826490	chr11:9451085-9451086	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs61545331	chr11:9451089-9451090	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561653043	chr11:9451102-9451103	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189227684	chr11:9451114-9451115	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs371081486	chr11:9451137-9451138	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192773709	chr11:9451150-9451151	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533370257	chr11:9451155-9451156	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs367657779	chr11:9451174-9451175	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs560427854	chr11:9451177-9451178	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs377239276	chr11:9451188-9451189	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs142726141	chr11:9451193-9451194	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs367565760	chr11:9451208-9451209	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200512728	chr11:9451215-9451216	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368487060	chr11:9451218-9451219	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567042532	chr11:9451327-9451328	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147354489	chr11:9451340-9451341	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs78737697	chr11:9451396-9451397	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs558878534	chr11:9451408-9451409	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9407600-9464000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:9416000-9456000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:9419600-9471000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:9420600-9450400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:9421000-9471200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:9423000-9470400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:9424200-9470400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:9424800-9468600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:9424800-9469000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:9424800-9470600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:9425000-9468200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr11:9425000-9468400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr11:9425200-9467200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:9425800-9468000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:9426200-9471600	Strong transcription	Dnd41	blood
16	chr11:9426800-9468400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr11:9426800-9470600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:9427200-9466800	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:9427600-9471000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:9429800-9469000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:9430200-9459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:9430200-9470200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:9430400-9457400	Strong transcription	A549	lung
24	chr11:9430400-9468200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:9431000-9453000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr11:9431800-9468800	Weak transcription	Stomach Mucosa	stomach
27	chr11:9432800-9450400	Weak transcription	Spleen	Spleen
28	chr11:9433000-9464000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:9433200-9451400	Weak transcription	Aorta	Aorta
30	chr11:9434800-9470400	Strong transcription	Osteobl	bone
31	chr11:9435400-9466600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr11:9435400-9470400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:9436800-9450600	Weak transcription	Esophagus	oesophagus
34	chr11:9439400-9468200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:9439600-9467600	Strong transcription	Placenta	Placenta
36	chr11:9439600-9468000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:9439600-9472000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:9439800-9467000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:9439800-9468200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr11:9439800-9470200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:9439800-9470600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:9440000-9452800	Strong transcription	Adipose Nuclei	Adipose
43	chr11:9440000-9465600	Strong transcription	NH-A	brain
44	chr11:9440000-9466200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:9440000-9470800	Strong transcription	Fetal Thymus	thymus
46	chr11:9440200-9466600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:9440200-9468200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr11:9440200-9468400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:9440200-9470400	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr11:9441600-9466800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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