Variant report

Variant	nsv892193
Chromosome Location	chr9:7208342-7248916
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:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:7233905..7235874-chr9:7236903..7238823,2	K562	blood:
2	chr9:7227823..7230431-chr9:7232012..7234490,2	K562	blood:
3	chr9:7248541..7250774-chr9:7255536..7257975,2	K562	blood:
4	chr9:7094001..7094660-chr9:7234238..7234769,2	MCF-7	breast:
5	chr1:64982456..64983122-chr9:7222631..7223173,2	MCF-7	breast:
6	chr9:7227823..7230431-chr9:7232012..7234490,2	K562	blood:
7	chr9:7233905..7235874-chr9:7236903..7238823,2	K562	blood:
8	chr9:7052501..7053186-chr9:7233839..7234508,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-4	chr9:7209783-7209962	XLOC_007277
2	lnc-KDM4C-4	chr9:7208935-7208961	NONHSAT130172
3	lnc-KDM4C-4	chr9:7208936-7208961	XLOC_007277
4	lnc-KDM4C-4	chr9:7209772-7210156	NONHSAT130172

No data

Extended variants
information (count: 1637 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1637 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2820899	chr9:7208342-7208343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551014378	chr9:7208374-7208375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141636251	chr9:7208404-7208405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552946274	chr9:7208434-7208435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543994243	chr9:7208440-7208441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562083685	chr9:7208466-7208467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184363262	chr9:7208468-7208469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547818119	chr9:7208489-7208490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569581415	chr9:7208520-7208521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566050728	chr9:7208541-7208542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540236689	chr9:7208589-7208590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs78953788	chr9:7208612-7208613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528149098	chr9:7208631-7208632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs72705377	chr9:7208683-7208684	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368204627	chr9:7208710-7208711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537689727	chr9:7208751-7208752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs114875401	chr9:7208763-7208764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150498276	chr9:7208784-7208785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200134469	chr9:7208785-7208786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35948292	chr9:7208791-7208792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535486536	chr9:7208800-7208801	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs188743116	chr9:7208825-7208826	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs10815550	chr9:7208828-7208829	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs139865656	chr9:7208864-7208865	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs553970357	chr9:7208977-7208978	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558078952	chr9:7208990-7208991	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576666665	chr9:7209011-7209012	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs543667436	chr9:7209012-7209013	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs192071789	chr9:7209049-7209050	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs7030704	chr9:7209051-7209052	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs577207153	chr9:7209055-7209056	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529390031	chr9:7209057-7209058	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs541504062	chr9:7209058-7209059	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs559870666	chr9:7209109-7209110	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs185031038	chr9:7209110-7209111	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs551795946	chr9:7209157-7209158	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs570694944	chr9:7209190-7209191	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs7047667	chr9:7209215-7209216	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs549712873	chr9:7209217-7209218	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs189493988	chr9:7209229-7209230	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs539456223	chr9:7209234-7209235	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs7031928	chr9:7209236-7209237	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs180995554	chr9:7209238-7209239	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185821396	chr9:7209249-7209250	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs539088591	chr9:7209253-7209254	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs386732209	chr9:7209257-7209258	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs201333006	chr9:7209258-7209259	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs544068449	chr9:7209259-7209260	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs74534514	chr9:7209262-7209263	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7020238	chr9:7209284-7209285	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7204800-7208800	Weak transcription	Brain Hippocampus Middle	brain
2	chr9:7206200-7210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:7206400-7212200	Weak transcription	Fetal Heart	heart
4	chr9:7207000-7209200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:7207600-7208800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr9:7208400-7208800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:7208600-7208800	Enhancers	Brain Substantia Nigra	brain
8	chr9:7208800-7209000	Enhancers	Brain Anterior Caudate	brain
9	chr9:7208800-7209000	Enhancers	Brain Germinal Matrix	brain
10	chr9:7208800-7209000	Enhancers	Fetal Brain Male	brain
11	chr9:7208800-7209400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr9:7208800-7209600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr9:7208800-7209800	Active TSS	Brain Hippocampus Middle	brain
14	chr9:7208800-7209800	Active TSS	Brain Substantia Nigra	brain
15	chr9:7208800-7212000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:7208800-7212600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr9:7209000-7209400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:7209000-7209400	Bivalent/Poised TSS	Fetal Lung	lung
19	chr9:7209000-7209400	Active TSS	NHLF	lung
20	chr9:7209000-7209600	Active TSS	Brain Anterior Caudate	brain
21	chr9:7209000-7209600	Active TSS	NH-A	brain
22	chr9:7209000-7209800	Active TSS	Brain Angular Gyrus	brain
23	chr9:7209000-7209800	Active TSS	Brain Cingulate Gyrus	brain
24	chr9:7209000-7209800	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr9:7209000-7211000	Weak transcription	Fetal Brain Male	brain
26	chr9:7209200-7209400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr9:7209200-7209600	Active TSS	Fetal Brain Female	brain
28	chr9:7209200-7209600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr9:7209200-7210200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:7209400-7209600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr9:7209400-7209800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr9:7209400-7210200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:7209400-7210600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
34	chr9:7209400-7212200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr9:7209600-7209800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:7209600-7209800	Enhancers	Fetal Brain Female	brain
37	chr9:7209600-7210000	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr9:7209600-7211400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:7209600-7212000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:7209600-7212000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:7209600-7212000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:7209600-7213600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr9:7209800-7210000	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr9:7209800-7210000	Enhancers	Brain Substantia Nigra	brain
45	chr9:7209800-7210800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr9:7209800-7211000	Enhancers	Brain Germinal Matrix	brain
47	chr9:7209800-7211800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:7209800-7211800	Enhancers	Brain Angular Gyrus	brain
49	chr9:7209800-7211800	Enhancers	Brain Hippocampus Middle	brain
50	chr9:7209800-7212600	Enhancers	HUES64 Cell Line	embryonic stem cell

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