Variant report

Variant	nsv416854
Chromosome Location	chr9:10202700-10210812
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	chr9:10195419..10198358-chr9:10209955..10212738,2	K562	blood:

Extended variants
information (count: 358 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140957004	chr9:10202720-10202721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371865426	chr9:10202723-10202724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532205810	chr9:10202738-10202739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532989369	chr9:10202754-10202755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs294814	chr9:10202765-10202766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs149850101	chr9:10202775-10202776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569042339	chr9:10202793-10202794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73398325	chr9:10202806-10202807	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs141732112	chr9:10202820-10202821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568079480	chr9:10202875-10202876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367596549	chr9:10202881-10202882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561326143	chr9:10202886-10202887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369666023	chr9:10202919-10202920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114316546	chr9:10202948-10202949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185958969	chr9:10202960-10202961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545315628	chr9:10202989-10202990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373486918	chr9:10203019-10203020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577068524	chr9:10203054-10203055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112409391	chr9:10203087-10203088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556848284	chr9:10203090-10203091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576637322	chr9:10203097-10203098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200605889	chr9:10203130-10203131	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532389088	chr9:10203169-10203170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78599779	chr9:10203171-10203172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551225648	chr9:10203185-10203186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190874875	chr9:10203186-10203187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78988937	chr9:10203187-10203188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62538581	chr9:10203189-10203190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542478032	chr9:10203197-10203198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560879147	chr9:10203219-10203220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs294813	chr9:10203246-10203247	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540377830	chr9:10203407-10203408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138493835	chr9:10203419-10203420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532371536	chr9:10203470-10203471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55723104	chr9:10203481-10203482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183080963	chr9:10203504-10203505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569005200	chr9:10203507-10203508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531522386	chr9:10203555-10203556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142017718	chr9:10203611-10203612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79134053	chr9:10203642-10203643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187050122	chr9:10203648-10203649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547523306	chr9:10203674-10203675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570839524	chr9:10203693-10203694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540049696	chr9:10203714-10203715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78099561	chr9:10203771-10203772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576542297	chr9:10203866-10203867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148191247	chr9:10203927-10203928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556094220	chr9:10203930-10203931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574527770	chr9:10203944-10203945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540219813	chr9:10203946-10203947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
XY gonadal dysgenesis	20685758	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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	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
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10198600-10208000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:10203000-10203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:10203000-10203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:10203200-10203600	Enhancers	Primary B cells from peripheral blood	blood
5	chr9:10203400-10203800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr9:10206200-10206400	Enhancers	Fetal Heart	heart
7	chr9:10206400-10207000	Weak transcription	Fetal Heart	heart
8	chr9:10207000-10207200	Enhancers	Fetal Heart	heart
9	chr9:10207800-10208000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr9:10207800-10208000	Weak transcription	Fetal Heart	heart
11	chr9:10207800-10208800	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr9:10207800-10209200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr9:10207800-10209200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr9:10208000-10208200	Active TSS	Primary B cells from cord blood	blood
15	chr9:10208000-10208400	Active TSS	Fetal Intestine Small	intestine
16	chr9:10208000-10208600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr9:10208000-10208800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr9:10208000-10208800	Active TSS	Primary B cells from peripheral blood	blood
19	chr9:10208000-10208800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:10208000-10208800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr9:10208000-10208800	Active TSS	Adipose Nuclei	Adipose
22	chr9:10208000-10208800	Active TSS	Colon Smooth Muscle	Colon
23	chr9:10208000-10208800	Active TSS	Fetal Brain Female	brain
24	chr9:10208000-10208800	Active TSS	Fetal Kidney	kidney
25	chr9:10208000-10208800	Active TSS	Fetal Lung	lung
26	chr9:10208000-10208800	Active TSS	Fetal Stomach	stomach
27	chr9:10208000-10208800	Active TSS	Right Ventricle	heart
28	chr9:10208000-10208800	Active TSS	A549	lung
29	chr9:10208000-10208800	Active TSS	HUVEC	blood vessel
30	chr9:10208000-10208800	Active TSS	NH-A	brain
31	chr9:10208000-10209000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr9:10208000-10209000	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr9:10208000-10209000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:10208000-10209000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr9:10208000-10209000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:10208000-10209000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:10208000-10209000	Active TSS	Liver	Liver
38	chr9:10208000-10209000	Active TSS	Brain Hippocampus Middle	brain
39	chr9:10208000-10209000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr9:10208000-10209000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr9:10208000-10209000	Active TSS	Right Atrium	heart
42	chr9:10208000-10209000	Active TSS	NHEK	skin
43	chr9:10208000-10209200	Active TSS	Brain Anterior Caudate	brain
44	chr9:10208200-10208400	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr9:10208200-10208600	Active TSS	Pancreas	Pancrea
46	chr9:10208200-10208600	Active TSS	HSMM	muscle
47	chr9:10208200-10208800	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr9:10208200-10208800	Active TSS	Primary hematopoietic stem cells	blood
49	chr9:10208200-10208800	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr9:10208200-10209000	Active TSS	Muscle Satellite Cultured Cells	--

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