Variant report

Variant	nsv428535
Chromosome Location	chr9:12489903-12622041
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:12615022..12617476-chr9:12617492..12619010,2	MCF-7	breast:
2	chr9:12526692..12528486-chr9:12531576..12533111,2	MCF-7	breast:
3	chr9:12494239..12495105-chr9:12503977..12504835,2	MCF-7	breast:
4	chr1:149223798..149224416-chr9:12526808..12527328,4	MCF-7	breast:
5	chr9:12615022..12617476-chr9:12617492..12619010,2	MCF-7	breast:
6	chr9:12495478..12497603-chr9:12499554..12502350,2	MCF-7	breast:
7	chr9:12495478..12497603-chr9:12499554..12502350,2	MCF-7	breast:
8	chr9:12526692..12528486-chr9:12531576..12533111,2	MCF-7	breast:
9	chr9:12607055..12609983-chr9:12671838..12674027,2	K562	blood:
10	chr9:12554435..12555308-chr9:12639713..12640600,2	MCF-7	breast:
11	chr9:12494239..12495105-chr9:12503977..12504835,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206737	chromatin interactions

Extended variants
information (count: 1534 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1534 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1325134	chr9:12490602-12490603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs144629594	chr9:12490607-12490608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559593537	chr9:12490613-12490614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528543277	chr9:12490617-12490618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75843872	chr9:12490635-12490636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76814538	chr9:12490644-12490645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11999926	chr9:12490665-12490666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs193282450	chr9:12490676-12490677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185497605	chr9:12490679-12490680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528256361	chr9:12490686-12490687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375843495	chr9:12490689-12490690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs201176041	chr9:12490702-12490703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567928254	chr9:12490747-12490748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536276802	chr9:12490771-12490772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552887642	chr9:12490790-12490791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188030108	chr9:12490791-12490792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538767135	chr9:12490811-12490812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79719741	chr9:12490827-12490828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575430267	chr9:12490832-12490833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192332410	chr9:12490846-12490847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554464035	chr9:12490865-12490866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78134851	chr9:12490866-12490867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542619157	chr9:12490937-12490938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559736279	chr9:12490973-12490974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs150559333	chr9:12491009-12491010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs791655	chr9:12491022-12491023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184282479	chr9:12491062-12491063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531146741	chr9:12491063-12491064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs139330499	chr9:12491071-12491072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs62542340	chr9:12491074-12491075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372614758	chr9:12491095-12491096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201264898	chr9:12491097-12491098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376577394	chr9:12491100-12491101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546969829	chr9:12491130-12491131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs151089521	chr9:12493041-12493042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568433118	chr9:12493046-12493047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs180900396	chr9:12493068-12493069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184950578	chr9:12493090-12493091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577396665	chr9:12493130-12493131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539607479	chr9:12493155-12493156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142493007	chr9:12493210-12493211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576284644	chr9:12493215-12493216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541437191	chr9:12493222-12493223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553633250	chr9:12493231-12493232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374764809	chr9:12493266-12493267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs76507750	chr9:12493277-12493278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190196274	chr9:12493297-12493298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545425621	chr9:12493364-12493365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570502088	chr9:12493382-12493383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564194945	chr9:12493398-12493399	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
abnormal development	18461090	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	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
Cancer	20164920	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
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12490600-12491200	Enhancers	Fetal Heart	heart
2	chr9:12493000-12493600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:12494200-12495800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr9:12495000-12496000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:12495400-12496200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr9:12495800-12496400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:12495800-12496400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr9:12496000-12496600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:12496800-12497000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:12497800-12499000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr9:12503800-12504200	Enhancers	Fetal Lung	lung
12	chr9:12511600-12512800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr9:12511800-12512200	Enhancers	Fetal Brain Female	brain
14	chr9:12512800-12513000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr9:12512800-12513800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:12513000-12514200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr9:12514000-12514200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:12514200-12514400	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr9:12515400-12516600	Enhancers	Colon Smooth Muscle	Colon
20	chr9:12516200-12517000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr9:12516200-12517000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:12516800-12517200	Enhancers	Rectal Smooth Muscle	rectum
23	chr9:12519000-12519600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr9:12519600-12520000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:12520000-12520600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr9:12539000-12540200	Active TSS	Pancreas	Pancrea
27	chr9:12539200-12539400	Enhancers	Ovary	ovary
28	chr9:12539200-12539600	Flanking Active TSS	Fetal Lung	lung
29	chr9:12539200-12539800	Active TSS	Right Atrium	heart
30	chr9:12539200-12540000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr9:12539400-12539800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:12539400-12539800	Active TSS	Aorta	Aorta
33	chr9:12539400-12539800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr9:12539400-12540000	Flanking Active TSS	Ovary	ovary
35	chr9:12539600-12540400	Enhancers	Fetal Lung	lung
36	chr9:12539800-12540200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr9:12540000-12540200	Enhancers	Ovary	ovary
38	chr9:12540200-12544600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr9:12540400-12540800	Enhancers	Pancreas	Pancrea
40	chr9:12544400-12544600	Enhancers	Brain Germinal Matrix	brain
41	chr9:12544600-12546400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr9:12544800-12545400	Weak transcription	Brain Germinal Matrix	brain
43	chr9:12544800-12545800	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr9:12545400-12546400	Enhancers	Brain Germinal Matrix	brain
45	chr9:12546000-12546400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:12555400-12556200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:12555400-12556800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:12559600-12560000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:12560000-12560400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr9:12566800-12567400	Enhancers	Stomach Mucosa	stomach

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