Variant report

Variant	nsv1022624
Chromosome Location	chr9:1231372-1311310
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:2)
LncRNA
region (count:22)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:35897413..35898334-chr9:1234312..1235126,2	MCF-7	breast:
2	chr9:1199075..1201039-chr9:1246978..1249972,2	K562	blood:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT2-2	chr9:1298276-1298431	NONHSAT129967
2	lnc-DMRT2-4	chr9:1288277-1288431	l_3725_chr9:1288276-1302899_breast
3	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
4	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
5	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
6	lnc-DMRT2-2	chr9:1298286-1298431	XLOC_007263
7	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
8	lnc-DMRT2-2	chr9:1310939-1311032	NONHSAT129967
9	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
10	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
11	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
12	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
13	lnc-DMRT2-2	chr9:1299313-1299412	NONHSAT129967
14	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
15	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
16	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
17	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
18	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
19	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
20	lnc-DMRT2-4	chr9:1289314-1289412	l_3725_chr9:1288276-1302899_breast
21	lnc-DMRT2-4	chr9:1300940-1301032	l_3725_chr9:1288276-1302899_breast
22	lnc-DMRT2-4	chr9:1302841-1302899	l_3725_chr9:1288276-1302899_breast

No data

Variant related genes	Relation type
ENSG00000006114	chromatin interactions
AP3D1	miRNA target sites
AP2M1	miRNA target sites

Extended variants
information (count: 2889 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:2889 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10511426	chr9:1231372-1231373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs72689503	chr9:1231379-1231380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561737024	chr9:1231390-1231391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534355823	chr9:1231397-1231398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552800890	chr9:1231402-1231403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10756347	chr9:1231408-1231409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs541480982	chr9:1231412-1231413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561373655	chr9:1231453-1231454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10756348	chr9:1231484-1231485	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs56979321	chr9:1231519-1231520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs16923008	chr9:1231553-1231554	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533463616	chr9:1231555-1231556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532989091	chr9:1231562-1231563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368534335	chr9:1231598-1231599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546734933	chr9:1231625-1231626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560401207	chr9:1231633-1231634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550094198	chr9:1231654-1231655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112293894	chr9:1231678-1231679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186593535	chr9:1231694-1231695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371352134	chr9:1231711-1231712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549188164	chr9:1231715-1231716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs373467533	chr9:1231744-1231745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144067944	chr9:1231745-1231746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113084502	chr9:1231802-1231803	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs112166353	chr9:1231806-1231807	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs552105356	chr9:1231808-1231809	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs189966515	chr9:1231809-1231810	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs182270040	chr9:1231839-1231840	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs570468974	chr9:1231875-1231876	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs10756351	chr9:1231884-1231885	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77918975	chr9:1231920-1231921	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs147250273	chr9:1231922-1231923	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs566482597	chr9:1231963-1231964	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs574938405	chr9:1231964-1231965	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs78560327	chr9:1231986-1231987	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs140673007	chr9:1231989-1231990	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs186574853	chr9:1232060-1232061	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs368927658	chr9:1232061-1232062	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540079208	chr9:1232081-1232082	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs191017899	chr9:1232167-1232168	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs529063199	chr9:1232169-1232170	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs117990191	chr9:1232184-1232185	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs79716114	chr9:1232226-1232227	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs553825728	chr9:1232235-1232236	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs116889373	chr9:1232267-1232268	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs373462997	chr9:1232268-1232269	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs144725742	chr9:1232298-1232299	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs114268578	chr9:1232312-1232313	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs528014575	chr9:1232319-1232320	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs547755689	chr9:1232323-1232324	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Autism	22495311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1230400-1232200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr9:1230800-1231800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:1231000-1231800	Enhancers	NHDF-Ad	bronchial
4	chr9:1231200-1231800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr9:1231200-1232200	Enhancers	NHLF	lung
6	chr9:1231400-1232800	Enhancers	Psoas Muscle	Psoas
7	chr9:1231600-1231800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:1231600-1232000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:1231600-1233600	Enhancers	HepG2	liver
10	chr9:1231800-1232000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:1231800-1232200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:1231800-1232200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr9:1231800-1232200	Enhancers	Adipose Nuclei	Adipose
14	chr9:1231800-1232200	Enhancers	Liver	Liver
15	chr9:1231800-1232200	Enhancers	Colon Smooth Muscle	Colon
16	chr9:1231800-1232200	Enhancers	Stomach Smooth Muscle	stomach
17	chr9:1231800-1232200	Enhancers	HSMM	muscle
18	chr9:1231800-1232200	Flanking Active TSS	NHDF-Ad	bronchial
19	chr9:1231800-1232200	Enhancers	Osteobl	bone
20	chr9:1231800-1232400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:1231800-1232600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:1231800-1232800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr9:1231800-1232800	Enhancers	Fetal Intestine Large	intestine
24	chr9:1232000-1232200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:1232000-1232200	Enhancers	Brain Hippocampus Middle	brain
26	chr9:1232000-1232200	Enhancers	Fetal Lung	lung
27	chr9:1232000-1232200	Enhancers	HSMMtube	muscle
28	chr9:1232000-1232200	Enhancers	NHEK	skin
29	chr9:1232000-1232400	Enhancers	Aorta	Aorta
30	chr9:1232000-1232600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:1232000-1232600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr9:1232000-1232600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:1232000-1232600	Enhancers	Fetal Intestine Small	intestine
34	chr9:1232000-1232600	Enhancers	Pancreas	Pancrea
35	chr9:1232000-1232800	Enhancers	Fetal Stomach	stomach
36	chr9:1232200-1232400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:1232200-1232400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:1232200-1232400	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr9:1232200-1232400	Active TSS	NHDF-Ad	bronchial
40	chr9:1232200-1232400	Active TSS	Osteobl	bone
41	chr9:1232200-1232600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr9:1232200-1232600	Flanking Active TSS	Liver	Liver
43	chr9:1232200-1232600	Enhancers	Esophagus	oesophagus
44	chr9:1232200-1232600	Flanking Active TSS	Fetal Lung	lung
45	chr9:1232200-1232600	Enhancers	Ovary	ovary
46	chr9:1232200-1232600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr9:1232200-1232600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr9:1232200-1232600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr9:1232200-1232600	Enhancers	Stomach Mucosa	stomach
50	chr9:1232200-1232600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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