Variant report

Variant	nsv892077
Chromosome Location	chr9:2663639-2690980
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2682099..2684421-chr9:2688632..2690767,2	MCF-7	breast:
2	chr9:2677676..2680039-chr9:2680845..2683577,2	K562	blood:
3	chr9:2677676..2680039-chr9:2680845..2683577,2	K562	blood:
4	chr9:2672525..2674889-chr9:2677080..2679041,2	MCF-7	breast:
5	chr9:2682099..2684421-chr9:2688632..2690767,2	MCF-7	breast:
6	chr9:2672525..2674889-chr9:2677080..2679041,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-4	chr9:2683510-2684133	NONHSAT130005

No data

Extended variants
information (count: 1352 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1352 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2063572	chr9:2663639-2663640	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373884082	chr9:2663652-2663653	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs570612005	chr9:2663660-2663661	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs371952726	chr9:2663661-2663662	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs544992233	chr9:2663700-2663701	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs150062006	chr9:2663727-2663728	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs2063571	chr9:2663731-2663732	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs34944046	chr9:2663740-2663741	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541198064	chr9:2663742-2663743	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs115085784	chr9:2663759-2663760	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs2063570	chr9:2663788-2663789	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369964834	chr9:2663794-2663795	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563933314	chr9:2663801-2663802	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2054073	chr9:2663825-2663826	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs573745408	chr9:2663827-2663828	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs10967394	chr9:2663837-2663838	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs528173846	chr9:2663846-2663847	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs547944335	chr9:2663853-2663854	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs568171423	chr9:2663856-2663857	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs111459586	chr9:2663864-2663865	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs556776467	chr9:2663882-2663883	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs149195004	chr9:2663919-2663920	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs535399315	chr9:2663935-2663936	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs539374587	chr9:2664002-2664003	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs558892559	chr9:2664023-2664024	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572313878	chr9:2664045-2664046	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs143273521	chr9:2664080-2664081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs187183915	chr9:2664093-2664094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs138854721	chr9:2664098-2664099	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs544024412	chr9:2664111-2664112	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563921247	chr9:2664120-2664121	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs372144970	chr9:2664152-2664153	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs115137288	chr9:2664155-2664156	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs140628492	chr9:2664197-2664198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs145632760	chr9:2664274-2664275	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560011627	chr9:2664294-2664295	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs528047582	chr9:2664378-2664379	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs571857115	chr9:2664424-2664425	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548175889	chr9:2664429-2664430	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs545496335	chr9:2664466-2664467	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs79861537	chr9:2664470-2664471	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs530566052	chr9:2664495-2664496	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs550337953	chr9:2664496-2664497	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs570344030	chr9:2664556-2664557	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs190438943	chr9:2664567-2664568	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs112102031	chr9:2664571-2664572	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs138265203	chr9:2664630-2664631	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372966710	chr9:2664637-2664638	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs73640164	chr9:2664672-2664673	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs529254667	chr9:2664698-2664699	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
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
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
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD
Ovarian cancer	22355333	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2641400-2668400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:2643800-2664000	Weak transcription	Spleen	Spleen
3	chr9:2643800-2666800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:2644000-2667200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:2649200-2664800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:2653000-2666600	Weak transcription	Fetal Stomach	stomach
7	chr9:2653600-2664000	Weak transcription	Esophagus	oesophagus
8	chr9:2653800-2663800	Weak transcription	Right Ventricle	heart
9	chr9:2654200-2666800	Weak transcription	Lung	lung
10	chr9:2655200-2664400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:2655600-2664200	Weak transcription	Ovary	ovary
12	chr9:2655600-2664600	Weak transcription	Fetal Brain Female	brain
13	chr9:2655800-2664000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr9:2656000-2664000	Weak transcription	Pancreas	Pancrea
15	chr9:2656000-2666600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:2656000-2677800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr9:2656400-2664000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr9:2661200-2664600	Enhancers	Fetal Heart	heart
19	chr9:2661800-2666800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:2662200-2665000	Enhancers	Right Atrium	heart
21	chr9:2662600-2664600	Weak transcription	Brain Substantia Nigra	brain
22	chr9:2662800-2664000	Weak transcription	Left Ventricle	heart
23	chr9:2662800-2664600	Enhancers	Brain Hippocampus Middle	brain
24	chr9:2662800-2664800	Enhancers	Fetal Muscle Leg	muscle
25	chr9:2663000-2664000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr9:2663200-2664400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:2663200-2664400	Enhancers	Adipose Nuclei	Adipose
28	chr9:2663200-2664800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr9:2663400-2663800	Enhancers	Fetal Brain Male	brain
30	chr9:2663400-2664200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr9:2663400-2664800	Enhancers	Brain Anterior Caudate	brain
32	chr9:2663600-2663800	Active TSS	Psoas Muscle	Psoas
33	chr9:2663600-2665000	Enhancers	Brain Angular Gyrus	brain
34	chr9:2663600-2665000	Enhancers	Dnd41	blood
35	chr9:2663800-2664000	Bivalent Enhancer	Primary B cells from cord blood	blood
36	chr9:2663800-2664000	Flanking Active TSS	Psoas Muscle	Psoas
37	chr9:2663800-2665000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr9:2663800-2665000	Enhancers	Right Ventricle	heart
39	chr9:2664000-2664200	Enhancers	Esophagus	oesophagus
40	chr9:2664000-2664200	Enhancers	Fetal Muscle Trunk	muscle
41	chr9:2664000-2664200	Enhancers	Pancreas	Pancrea
42	chr9:2664000-2664600	Enhancers	Stomach Smooth Muscle	stomach
43	chr9:2664000-2664800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr9:2664000-2665000	Enhancers	Left Ventricle	heart
45	chr9:2664000-2665000	Enhancers	Psoas Muscle	Psoas
46	chr9:2664000-2665000	Enhancers	Spleen	Spleen
47	chr9:2664200-2664600	Weak transcription	Esophagus	oesophagus
48	chr9:2664200-2665000	Enhancers	Ovary	ovary
49	chr9:2664200-2665000	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr9:2664400-2664600	Enhancers	Brain Cingulate Gyrus	brain

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