Variant report

Variant	esv3415944
Chromosome Location	chr9:6482061-6486840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:6485494-6485687	IMR90	lung:	n/a	chr9:6485629-6485640 chr9:6485629-6485642
2	CEBPB	chr9:6486403-6486721	HepG2	liver:	n/a	chr9:6486541-6486550 chr9:6486540-6486551 chr9:6486539-6486550
3	PBX3	chr9:6485734-6485852	GM12878	blood:	n/a	n/a
4	POLR2A	chr9:6483022-6483067	ProgFib	skin:	n/a	n/a
5	POLR2A	chr9:6482467-6482653	HepG2	liver:	n/a	n/a
6	POLR2A	chr9:6486753-6486789	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr9:6482868-6483124	HepG2	liver:	n/a	n/a
8	POLR2A	chr9:6482357-6482376	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr9:6482082-6482356	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr9:6482687-6482693	HepG2	liver:	n/a	n/a
11	POLR2A	chr9:6484194-6484212	GM12878	blood:	n/a	n/a
12	POLR2A	chr9:6486598-6486748	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr9:6486106-6486153	GM12878	blood:	n/a	n/a
14	ZNF263	chr9:6484167-6484676	HEK293-T-REx	kidney:	n/a	chr9:6484390-6484411

Variant related genes	Relation type
UHRF2	TF binding region

Extended variants
information (count: 232 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:232 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150054333	chr9:6482079-6482080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs372282086	chr9:6482087-6482088	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs61760197	chr9:6482100-6482101	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs375783512	chr9:6482116-6482117	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548769971	chr9:6482175-6482176	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs567084576	chr9:6482208-6482209	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs377308216	chr9:6482233-6482234	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs191254724	chr9:6482264-6482265	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs570754213	chr9:6482269-6482270	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs538278607	chr9:6482281-6482282	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs556286757	chr9:6482291-6482292	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs147942889	chr9:6482328-6482329	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs148583564	chr9:6482374-6482375	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs370175283	chr9:6482376-6482377	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs79685842	chr9:6482410-6482411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533889028	chr9:6482415-6482416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540135614	chr9:6482425-6482426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184501897	chr9:6482437-6482438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190561052	chr9:6482438-6482439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544144621	chr9:6482488-6482489	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs562363224	chr9:6482515-6482516	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs529778554	chr9:6482516-6482517	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs370253597	chr9:6482517-6482518	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs182270804	chr9:6482529-6482530	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142993712	chr9:6482572-6482573	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs372394696	chr9:6482584-6482585	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs527935359	chr9:6482660-6482661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552584702	chr9:6482679-6482680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112354779	chr9:6482688-6482689	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs538178864	chr9:6482692-6482693	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs140669641	chr9:6482697-6482698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550445955	chr9:6482701-6482702	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374732518	chr9:6482730-6482731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535534875	chr9:6482748-6482749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187498183	chr9:6482787-6482788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144608943	chr9:6482797-6482798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112813358	chr9:6482807-6482808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11787605	chr9:6482818-6482819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539219928	chr9:6482819-6482820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577036989	chr9:6482823-6482824	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140312864	chr9:6482826-6482827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145440764	chr9:6482851-6482852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138051337	chr9:6482876-6482877	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs555844362	chr9:6482877-6482878	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs370973765	chr9:6482880-6482881	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs189886000	chr9:6482937-6482938	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs149531538	chr9:6482993-6482994	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs564540612	chr9:6483001-6483002	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs532018177	chr9:6483019-6483020	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs181565803	chr9:6483030-6483031	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
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
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Dyslexia	22102821	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6450000-6482800	Weak transcription	Pancreas	Pancrea
2	chr9:6452600-6488000	Weak transcription	Colon Smooth Muscle	Colon
3	chr9:6452800-6485400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr9:6452800-6485400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr9:6458600-6482800	Weak transcription	Gastric	stomach
6	chr9:6458800-6497200	Weak transcription	Colonic Mucosa	Colon
7	chr9:6459400-6501800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:6460600-6486800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr9:6461400-6486000	Weak transcription	K562	blood
10	chr9:6463600-6518400	Weak transcription	Fetal Brain Male	brain
11	chr9:6467400-6486200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:6467400-6497200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:6468800-6482200	Weak transcription	Brain Anterior Caudate	brain
14	chr9:6471600-6482800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:6471600-6501800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:6471600-6504600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:6472200-6497200	Weak transcription	Aorta	Aorta
18	chr9:6472200-6508200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:6473000-6491600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:6473000-6499600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr9:6473800-6498400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:6473800-6506200	Weak transcription	Small Intestine	intestine
23	chr9:6474400-6490600	Strong transcription	HUVEC	blood vessel
24	chr9:6474800-6502800	Strong transcription	Dnd41	blood
25	chr9:6475000-6488400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:6475200-6503000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr9:6475400-6482400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:6475400-6490400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr9:6475400-6491800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr9:6475400-6491800	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr9:6475400-6494400	Strong transcription	Fetal Thymus	thymus
32	chr9:6475400-6508200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr9:6475400-6508400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:6475400-6508800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr9:6475400-6508800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr9:6475600-6494800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:6475800-6483200	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr9:6475800-6484600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr9:6475800-6488200	Strong transcription	Adipose Nuclei	Adipose
40	chr9:6475800-6491000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr9:6475800-6491800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:6475800-6492000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:6475800-6492800	Strong transcription	GM12878-XiMat	blood
44	chr9:6475800-6493000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:6475800-6493400	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr9:6475800-6497200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:6475800-6509000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr9:6475800-6510800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:6476000-6509400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:6476600-6491800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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