Variant report

Variant	nsv892011
Chromosome Location	chr9:845564-883226
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:879356..881162-chr9:885762..888045,2	K562	blood:
2	chr9:879492..881659-chr9:881684..884926,3	MCF-7	breast:
3	chr9:845876..848526-chr9:868544..871068,2	MCF-7	breast:
4	chr9:846543..848941-chr9:858349..860587,2	K562	blood:
5	chr9:858181..863479-chr9:867333..871768,4	MCF-7	breast:
6	chr9:846543..848941-chr9:858349..860587,2	K562	blood:
7	chr9:875320..878036-chr9:881518..883087,2	MCF-7	breast:
8	chr9:873202..875175-chr9:876431..878577,2	K562	blood:
9	chr9:843269..845393-chr9:851272..854140,2	MCF-7	breast:
10	chr9:845876..848526-chr9:868544..871068,2	MCF-7	breast:
11	chr9:858181..863479-chr9:867333..871768,4	MCF-7	breast:
12	chr9:875320..878036-chr9:881518..883087,2	MCF-7	breast:
13	chr9:873202..875175-chr9:876431..878577,2	K562	blood:
14	chr9:879492..881659-chr9:881684..884926,3	MCF-7	breast:
15	chr9:852085..854136-chr9:910104..912950,2	K562	blood:

No data

Extended variants
information (count: 1426 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1426 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549047016	chr9:846634-846635	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs148555187	chr9:846658-846659	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs145689772	chr9:846706-846707	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs557340464	chr9:846707-846708	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs12115433	chr9:846742-846743	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147743938	chr9:846756-846757	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs75320672	chr9:846761-846762	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs113067045	chr9:846765-846766	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs193021800	chr9:846806-846807	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs562969333	chr9:846866-846867	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs576478436	chr9:846894-846895	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs545384502	chr9:846896-846897	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs73382558	chr9:846903-846904	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs373112820	chr9:846915-846916	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs116726483	chr9:846925-846926	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs369701571	chr9:846931-846932	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs373091619	chr9:846935-846936	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs55905583	chr9:846952-846953	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs200261277	chr9:846956-846957	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs561460401	chr9:846982-846983	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs149922694	chr9:846996-846997	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs185453849	chr9:846999-847000	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs144994211	chr9:847008-847009	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs372939169	chr9:847013-847014	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs201368121	chr9:847031-847032	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs148670970	chr9:847044-847045	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs568893758	chr9:847051-847052	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs199545111	chr9:847066-847067	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs199577667	chr9:847069-847070	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs200595910	chr9:847072-847073	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs142217519	chr9:847073-847074	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs554365824	chr9:847081-847082	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs375702726	chr9:847097-847098	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs146767985	chr9:847109-847110	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs200875305	chr9:847112-847113	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs201896486	chr9:847114-847115	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs141173722	chr9:847115-847116	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs533575697	chr9:847126-847127	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs144989599	chr9:847129-847130	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs142373310	chr9:847152-847153	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs567468881	chr9:847162-847163	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs375565634	chr9:847169-847170	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs369697350	chr9:847178-847179	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs2273929	chr9:847208-847209	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs191878414	chr9:847219-847220	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs576559897	chr9:847220-847221	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs545517513	chr9:847240-847241	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs146297891	chr9:847262-847263	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs2273930	chr9:847265-847266	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541095240	chr9:847268-847269	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	21272361	CNVD
Ependymoma	20639864	CNVD
Non-small cell lung cancer	16651412	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:846600-847200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:846600-847200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:846600-847400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:846600-847400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
5	chr9:846800-847400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:846800-847400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr9:846800-847600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr9:846800-847800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:847000-847200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:847000-847200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:847000-847200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr9:847000-847800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr9:847000-848000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr9:847000-848200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr9:847200-847400	Bivalent Enhancer	GM12878-XiMat	blood
16	chr9:847400-847600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
17	chr9:847400-848000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:847400-848000	Flanking Active TSS	GM12878-XiMat	blood
19	chr9:848000-848400	Enhancers	GM12878-XiMat	blood
20	chr9:848000-849000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:848400-858200	Weak transcription	GM12878-XiMat	blood
22	chr9:849200-849400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr9:849200-849400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr9:849400-849600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr9:849400-849600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
26	chr9:849600-849800	Enhancers	Spleen	Spleen
27	chr9:852600-852800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr9:858200-858400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:858200-859600	Enhancers	GM12878-XiMat	blood
30	chr9:858400-860800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:858800-860000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr9:859600-860000	Flanking Active TSS	GM12878-XiMat	blood
33	chr9:860600-861000	Enhancers	Fetal Intestine Large	intestine
34	chr9:860800-861000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:860800-861000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:860800-861000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
37	chr9:867000-867400	Enhancers	Colon Smooth Muscle	Colon
38	chr9:870800-871200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr9:874800-876200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr9:875600-876000	Enhancers	Fetal Brain Male	brain
41	chr9:876200-876600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:878200-878400	Enhancers	Right Ventricle	heart
43	chr9:878200-878600	Bivalent Enhancer	Left Ventricle	heart
44	chr9:878400-878800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr9:878400-878800	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr9:878400-879000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:878600-878800	Enhancers	Adipose Nuclei	Adipose
48	chr9:879000-881800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr9:880400-882000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:880600-881200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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