Variant report

Variant	nsv892310
Chromosome Location	chr9:10197122-10279606
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:10245322..10247712-chr9:10249669..10252013,2	K562	blood:
2	chr9:10245322..10247712-chr9:10249669..10252013,2	K562	blood:
3	chr9:10195419..10198358-chr9:10209955..10212738,2	K562	blood:
4	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:
5	chr9:10060352..10060896-chr9:10268535..10269397,2	MCF-7	breast:
6	chr9:10195419..10198358-chr9:10209955..10212738,2	K562	blood:
7	chr9:10232139..10232838-chr9:10268581..10269404,3	MCF-7	breast:
8	chr9:10045409..10046174-chr9:10268540..10269128,2	MCF-7	breast:
9	chr9:10194645..10196647-chr9:10198778..10200840,2	K562	blood:

No data

Extended variants
information (count: 3469 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:3469 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs294829	chr9:10197122-10197123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs188437536	chr9:10197149-10197150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192903051	chr9:10197158-10197159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145290556	chr9:10197171-10197172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536378322	chr9:10197201-10197202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147652938	chr9:10197205-10197206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373258219	chr9:10197208-10197209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149728960	chr9:10197239-10197240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113883976	chr9:10197252-10197253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558900027	chr9:10197286-10197287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs575573715	chr9:10197289-10197290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537873690	chr9:10197318-10197319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554976433	chr9:10197327-10197328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148365050	chr9:10197329-10197330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117703034	chr9:10197345-10197346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs294828	chr9:10197358-10197359	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368528292	chr9:10197365-10197366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145574279	chr9:10197378-10197379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs149157971	chr9:10197387-10197388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143291803	chr9:10197389-10197390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532007446	chr9:10197396-10197397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566224951	chr9:10197493-10197494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185384409	chr9:10197543-10197544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs146774873	chr9:10197546-10197547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111809171	chr9:10197563-10197564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368398021	chr9:10197571-10197572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145894639	chr9:10197605-10197606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190313747	chr9:10197666-10197667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138495277	chr9:10197672-10197673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568936605	chr9:10197682-10197683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142017082	chr9:10197684-10197685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545698324	chr9:10197704-10197705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150237675	chr9:10197706-10197707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574823735	chr9:10197723-10197724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533896233	chr9:10197816-10197817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553859783	chr9:10197824-10197825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116906850	chr9:10197852-10197853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546012598	chr9:10197853-10197854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565342260	chr9:10197860-10197861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138893202	chr9:10197867-10197868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576549253	chr9:10198024-10198025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs294827	chr9:10198056-10198057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562195951	chr9:10198075-10198076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550950629	chr9:10198196-10198197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529700399	chr9:10198216-10198217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540200343	chr9:10198345-10198346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149260046	chr9:10198347-10198348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532273395	chr9:10198357-10198358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs147388698	chr9:10198371-10198372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569074659	chr9:10198391-10198392	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10196600-10198600	Enhancers	Fetal Heart	heart
2	chr9:10196800-10198600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:10198200-10198600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr9:10198600-10208000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:10203000-10203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr9:10203000-10203800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:10203200-10203600	Enhancers	Primary B cells from peripheral blood	blood
8	chr9:10203400-10203800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr9:10206200-10206400	Enhancers	Fetal Heart	heart
10	chr9:10206400-10207000	Weak transcription	Fetal Heart	heart
11	chr9:10207000-10207200	Enhancers	Fetal Heart	heart
12	chr9:10207800-10208000	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr9:10207800-10208000	Weak transcription	Fetal Heart	heart
14	chr9:10207800-10208800	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr9:10207800-10209200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr9:10207800-10209200	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr9:10208000-10208200	Active TSS	Primary B cells from cord blood	blood
18	chr9:10208000-10208400	Active TSS	Fetal Intestine Small	intestine
19	chr9:10208000-10208600	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr9:10208000-10208800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr9:10208000-10208800	Active TSS	Primary B cells from peripheral blood	blood
22	chr9:10208000-10208800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr9:10208000-10208800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:10208000-10208800	Active TSS	Adipose Nuclei	Adipose
25	chr9:10208000-10208800	Active TSS	Colon Smooth Muscle	Colon
26	chr9:10208000-10208800	Active TSS	Fetal Brain Female	brain
27	chr9:10208000-10208800	Active TSS	Fetal Kidney	kidney
28	chr9:10208000-10208800	Active TSS	Fetal Lung	lung
29	chr9:10208000-10208800	Active TSS	Fetal Stomach	stomach
30	chr9:10208000-10208800	Active TSS	Right Ventricle	heart
31	chr9:10208000-10208800	Active TSS	A549	lung
32	chr9:10208000-10208800	Active TSS	HUVEC	blood vessel
33	chr9:10208000-10208800	Active TSS	NH-A	brain
34	chr9:10208000-10209000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr9:10208000-10209000	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr9:10208000-10209000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:10208000-10209000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:10208000-10209000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:10208000-10209000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:10208000-10209000	Active TSS	Liver	Liver
41	chr9:10208000-10209000	Active TSS	Brain Hippocampus Middle	brain
42	chr9:10208000-10209000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr9:10208000-10209000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr9:10208000-10209000	Active TSS	Right Atrium	heart
45	chr9:10208000-10209000	Active TSS	NHEK	skin
46	chr9:10208000-10209200	Active TSS	Brain Anterior Caudate	brain
47	chr9:10208200-10208400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr9:10208200-10208600	Active TSS	Pancreas	Pancrea
49	chr9:10208200-10208600	Active TSS	HSMM	muscle
50	chr9:10208200-10208800	Active TSS	HUES64 Cell Line	embryonic stem cell

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