Variant report

Variant	esv3431704
Chromosome Location	chr9:6625666-6626190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:6624229..6626158-chr9:6679853..6681433,2	MCF-7	breast:
2	chr9:6623651..6625727-chr9:6679924..6681530,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529880906	chr9:6625670-6625671	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs549786316	chr9:6625674-6625675	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs547942842	chr9:6625684-6625685	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs76877110	chr9:6625696-6625697	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs527553073	chr9:6625763-6625764	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs142410357	chr9:6625787-6625788	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs570458583	chr9:6625797-6625798	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs139563189	chr9:6625801-6625802	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs149309321	chr9:6625855-6625856	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs568151509	chr9:6625857-6625858	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs2578273	chr9:6625864-6625865	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554379374	chr9:6625886-6625887	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs535441699	chr9:6625944-6625945	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs566260881	chr9:6625971-6625972	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs182449293	chr9:6625997-6625998	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs558146755	chr9:6626000-6626001	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs10481603	chr9:6626013-6626014	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs73639332	chr9:6626019-6626020	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7874313	chr9:6626029-6626030	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs375585218	chr9:6626034-6626035	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs76399172	chr9:6626063-6626064	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs368144020	chr9:6626076-6626077	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs117687944	chr9:6626128-6626129	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Dyslexia	22102821	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ependymoma	20639864	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6598600-6626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:6605200-6632800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:6620600-6625800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr9:6622200-6625800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr9:6622200-6628000	Weak transcription	GM12878-XiMat	blood
6	chr9:6624200-6625800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:6624200-6626000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:6624200-6630400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr9:6624200-6632800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:6624400-6626200	Strong transcription	Liver	Liver
11	chr9:6624600-6626400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:6624600-6628200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:6625200-6626400	Enhancers	Fetal Intestine Large	intestine
14	chr9:6625200-6626800	Enhancers	Fetal Intestine Small	intestine
15	chr9:6625200-6627000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr9:6625400-6626600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:6625400-6627400	Weak transcription	HepG2	liver
18	chr9:6625400-6628600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:6625600-6625800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:6625600-6625800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr9:6625600-6626200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:6625600-6626200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:6625600-6626800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr9:6625600-6627400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:6625800-6626200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:6625800-6626400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:6625800-6626800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr9:6625800-6627000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr9:6625800-6627000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr9:6626000-6626400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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