Variant report

Variant	nsv892343
Chromosome Location	chr9:11317902-11929890
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:12)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:10855837..10856356-chr9:11319207..11319905,2	MCF-7	breast:
2	chr9:11701463..11703909-chr9:11703963..11706145,2	K562	blood:
3	chr9:10855589..10857004-chr9:11319142..11320476,6	MCF-7	breast:
4	chr17:41381793..41383489-chr9:11453391..11454891,3	K562	blood:
5	chr9:10366359..10367238-chr9:11319480..11320059,2	MCF-7	breast:
6	chr11:13082457..13083259-chr9:11319197..11319700,2	MCF-7	breast:
7	chr9:11701463..11703909-chr9:11703963..11706145,2	K562	blood:
8	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
9	chr9:11687941..11690802-chr9:11691495..11694345,3	K562	blood:
10	chr9:11653547..11655405-chr9:11656471..11658764,2	K562	blood:
11	chr11:62609117..62610638-chr9:11453391..11454911,2	K562	blood:
12	chr9:11687941..11690802-chr9:11691495..11694345,3	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRD-5	chr9:11829210-11829360	XLOC_007647
2	lnc-PTPRD-5	chr9:11834674-11834959	XLOC_007647
3	lnc-TYRP1-1	chr9:11325743-11325750	XLOC_007282
4	lnc-PTPRD-5	chr9:11826175-11826601	XLOC_007647
5	lnc-PTPRD-10	chr9:11819221-11819360	l_3733_chr9:11816028-11824988_testes
6	lnc-PTPRD-5	chr9:11822678-11822704	XLOC_007647
7	lnc-PTPRD-10	chr9:11824674-11824988	l_3733_chr9:11816028-11824988_testes
8	lnc-PTPRD-10	chr9:11816029-11816601	l_3733_chr9:11816028-11824988_testes
9	lnc-PTPRD-5	chr9:11834674-11834959	XLOC_007647
10	lnc-PTPRD-5	chr9:11829221-11829360	XLOC_007647
11	lnc-PTPRD-5	chr9:11834674-11834988	XLOC_007647
12	lnc-PTPRD-5	chr9:11829221-11829360	XLOC_007647

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions
ENSG00000133316	chromatin interactions
CUL5	miRNA target sites
FLOT2	miRNA target sites
CSF1	miRNA target sites

Extended variants
information (count: 8675 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:8675 , 50 per page) page: 1 2 3 4 5 6 7 ... 174

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564381806	chr9:11318010-11318011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs59110291	chr9:11318012-11318013	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370940749	chr9:11318061-11318062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375318879	chr9:11318114-11318115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367989973	chr9:11318120-11318121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7024928	chr9:11318132-11318133	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140704498	chr9:11318141-11318142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7024932	chr9:11318144-11318145	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs187435722	chr9:11318150-11318151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145842674	chr9:11318158-11318159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572940445	chr9:11318165-11318166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367557228	chr9:11318174-11318175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571901137	chr9:11318223-11318224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537058819	chr9:11318256-11318257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371467679	chr9:11318267-11318268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573820373	chr9:11318275-11318276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549097498	chr9:11318331-11318332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536309834	chr9:11318336-11318337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs193296848	chr9:11318344-11318345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7039688	chr9:11318345-11318346	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541216346	chr9:11318348-11318349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369949053	chr9:11318376-11318377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564263402	chr9:11318384-11318385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs60930252	chr9:11318451-11318452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34466307	chr9:11318471-11318472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543444879	chr9:11318538-11318539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529399049	chr9:11318570-11318571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541966135	chr9:11318607-11318608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542964181	chr9:11318611-11318612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548834673	chr9:11318647-11318648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559397607	chr9:11318713-11318714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78208563	chr9:11318720-11318721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551912242	chr9:11318754-11318755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571612304	chr9:11318812-11318813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531084295	chr9:11318889-11318890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371936246	chr9:11318890-11318891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs547467931	chr9:11318910-11318911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs550579587	chr9:11318916-11318917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566113509	chr9:11318959-11318960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140910502	chr9:11318963-11318964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536221043	chr9:11318984-11318985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376383176	chr9:11318996-11318997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553236113	chr9:11319000-11319001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566944856	chr9:11319012-11319013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534525475	chr9:11319074-11319075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185529777	chr9:11319077-11319078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143053277	chr9:11319088-11319089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75725046	chr9:11319100-11319101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543706033	chr9:11319106-11319107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35949444	chr9:11319140-11319141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164920	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Schizophrenia	18511947	CNVD
Renal cell carcinoma	21215367	CNVD
Schizophrenia	23813976	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:11318000-11321800	Enhancers	Fetal Brain Male	brain
2	chr9:11318200-11319200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr9:11318200-11319800	Enhancers	Fetal Brain Female	brain
4	chr9:11318800-11320000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr9:11318800-11320200	Enhancers	Brain Germinal Matrix	brain
6	chr9:11319200-11320200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr9:11319600-11320400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:11319600-11320400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:11319800-11320800	Weak transcription	Fetal Brain Female	brain
10	chr9:11320800-11321600	Enhancers	Fetal Brain Female	brain
11	chr9:11321800-11322600	Weak transcription	Fetal Brain Male	brain
12	chr9:11322600-11322800	Enhancers	Fetal Brain Male	brain
13	chr9:11326000-11326400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:11328400-11328600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:11330400-11330600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:11330600-11330800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr9:11335000-11335600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr9:11337800-11338400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:11337800-11338600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr9:11337800-11338800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:11338000-11339000	Enhancers	Primary hematopoietic stem cells	blood
22	chr9:11340400-11340800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr9:11347200-11349400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:11347400-11349400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr9:11347600-11349400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:11348200-11348800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr9:11348200-11349600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:11348400-11348800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr9:11348400-11349400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr9:11348600-11349200	Enhancers	Brain Germinal Matrix	brain
31	chr9:11348800-11349400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr9:11349000-11349400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr9:11349000-11349400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:11349400-11352800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr9:11351600-11351800	Enhancers	Brain Germinal Matrix	brain
36	chr9:11351800-11353600	Weak transcription	Brain Germinal Matrix	brain
37	chr9:11352200-11352800	Enhancers	Fetal Heart	heart
38	chr9:11352600-11353000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr9:11352800-11353000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:11353000-11353400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:11353000-11355600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:11353400-11356600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:11353600-11353800	Enhancers	Fetal Brain Male	brain
44	chr9:11353600-11354000	Enhancers	Brain Germinal Matrix	brain
45	chr9:11353800-11354800	Weak transcription	Fetal Brain Male	brain
46	chr9:11354000-11355200	Weak transcription	Brain Germinal Matrix	brain
47	chr9:11354800-11356200	Enhancers	Fetal Brain Male	brain
48	chr9:11355200-11356400	Enhancers	Brain Germinal Matrix	brain
49	chr9:11355600-11356200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr9:11355800-11356200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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