Variant report

Variant	esv3366333
Chromosome Location	chr9:6497322-6498037
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	POLR2A	chr9:6497330-6497490	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:6412621..6414719-chr9:6496485..6499094,2	K562	blood:

Variant related genes	Relation type
UHRF2	TF binding region
ENSG00000147854	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374374541	chr9:6497368-6497369	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs368404358	chr9:6497373-6497374	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs200680941	chr9:6497378-6497379	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs368630831	chr9:6497392-6497393	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371932704	chr9:6497410-6497411	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs139202850	chr9:6497424-6497425	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs570110657	chr9:6497442-6497443	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149771552	chr9:6497499-6497500	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs546908754	chr9:6497504-6497505	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs539373112	chr9:6497510-6497511	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550970135	chr9:6497548-6497549	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183989192	chr9:6497549-6497550	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs367956676	chr9:6497577-6497578	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536741378	chr9:6497578-6497579	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554724574	chr9:6497588-6497589	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs7029772	chr9:6497589-6497590	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs111586563	chr9:6497592-6497593	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs200572714	chr9:6497639-6497640	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534483743	chr9:6497657-6497658	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146800305	chr9:6497686-6497687	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577500941	chr9:6497697-6497698	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs79977076	chr9:6497704-6497705	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544930797	chr9:6497710-6497711	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556915994	chr9:6497711-6497712	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187211046	chr9:6497714-6497715	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs538858795	chr9:6497718-6497719	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs191394666	chr9:6497751-6497752	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560777753	chr9:6497777-6497778	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs528208035	chr9:6497794-6497795	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs558768829	chr9:6497801-6497802	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs569106513	chr9:6497838-6497839	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs75319247	chr9:6497841-6497842	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs538366383	chr9:6497902-6497903	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs183966381	chr9:6497944-6497945	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369822991	chr9:6497983-6497984	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376487736	chr9:6497996-6497997	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140599456	chr9:6497997-6497998	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201281173	chr9:6497998-6497999	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372105977	chr9:6498004-6498005	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs529995441	chr9:6498007-6498008	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs376766865	chr9:6498014-6498015	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6459400-6501800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:6463600-6518400	Weak transcription	Fetal Brain Male	brain
3	chr9:6471600-6501800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:6471600-6504600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:6472200-6508200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:6473000-6499600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:6473800-6498400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr9:6473800-6506200	Weak transcription	Small Intestine	intestine
9	chr9:6474800-6502800	Strong transcription	Dnd41	blood
10	chr9:6475200-6503000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr9:6475400-6508200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr9:6475400-6508400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:6475400-6508800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr9:6475400-6508800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr9:6475800-6509000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:6475800-6510800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:6476000-6509400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr9:6477600-6497800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:6477600-6507800	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr9:6477800-6511000	Weak transcription	Fetal Heart	heart
21	chr9:6478000-6498200	Weak transcription	Brain Angular Gyrus	brain
22	chr9:6478200-6498000	Weak transcription	Esophagus	oesophagus
23	chr9:6478400-6503400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr9:6478600-6498600	Weak transcription	Spleen	Spleen
25	chr9:6480200-6508400	Weak transcription	Stomach Mucosa	stomach
26	chr9:6480400-6497400	Weak transcription	Psoas Muscle	Psoas
27	chr9:6481600-6502800	Strong transcription	Duodenum Mucosa	Duodenum
28	chr9:6483200-6498000	Strong transcription	HMEC	breast
29	chr9:6484000-6498600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:6484400-6498200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:6484600-6497800	Weak transcription	Pancreas	Pancrea
32	chr9:6484600-6501800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:6485800-6498000	Weak transcription	Gastric	stomach
34	chr9:6487600-6498000	Weak transcription	Brain Anterior Caudate	brain
35	chr9:6487600-6499600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr9:6487600-6510600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr9:6488000-6497600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:6488200-6497800	Weak transcription	Brain Germinal Matrix	brain
39	chr9:6488200-6497800	Weak transcription	Lung	lung
40	chr9:6488200-6497800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr9:6488200-6498400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:6488800-6498200	Weak transcription	Fetal Brain Female	brain
43	chr9:6488800-6498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:6488800-6498600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:6489200-6501600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:6489200-6503000	Strong transcription	Primary B cells from cord blood	blood
47	chr9:6490400-6498200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr9:6490600-6498200	Weak transcription	Fetal Stomach	stomach
49	chr9:6491800-6498400	Weak transcription	Fetal Intestine Small	intestine
50	chr9:6492200-6497600	Weak transcription	Colon Smooth Muscle	Colon

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