Variant report

Variant	esv3436860
Chromosome Location	chr9:93644631-93648929
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	chr9:93638591..93640127-chr9:93644373..93647334,2	K562	blood:

Extended variants
information (count: 306 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192063128	chr9:93644666-93644667	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567244058	chr9:93644673-93644674	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538264998	chr9:93644711-93644712	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62554368	chr9:93644716-93644717	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183677691	chr9:93644749-93644750	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114100745	chr9:93644768-93644769	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566045570	chr9:93644812-93644813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528086677	chr9:93644876-93644877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534955838	chr9:93644887-93644888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558005215	chr9:93644898-93644899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372948634	chr9:93644920-93644921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1755938	chr9:93644948-93644949	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375243236	chr9:93644984-93644985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557475135	chr9:93644985-93644986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574002574	chr9:93645047-93645048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543051928	chr9:93645058-93645059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553369228	chr9:93645070-93645071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115941802	chr9:93645107-93645108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545349975	chr9:93645135-93645136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565019069	chr9:93645160-93645161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10993744	chr9:93645179-93645180	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs1675333	chr9:93645188-93645189	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561043180	chr9:93645228-93645229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529702197	chr9:93645236-93645237	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546207578	chr9:93645248-93645249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559743514	chr9:93645255-93645256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372818628	chr9:93645257-93645258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531963129	chr9:93645259-93645260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373554330	chr9:93645289-93645290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573762275	chr9:93645300-93645301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146271832	chr9:93645307-93645308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs571844214	chr9:93645340-93645341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537653257	chr9:93645362-93645363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550853073	chr9:93645368-93645369	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567765218	chr9:93645398-93645399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555956896	chr9:93645442-93645443	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs553481647	chr9:93645447-93645448	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs186943811	chr9:93645453-93645454	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs542758693	chr9:93645482-93645483	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539027507	chr9:93645523-93645524	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs190084991	chr9:93645524-93645525	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs575403522	chr9:93645525-93645526	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs544407455	chr9:93645534-93645535	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs560889016	chr9:93645537-93645538	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs574269406	chr9:93645542-93645543	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs539970160	chr9:93645554-93645555	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562463158	chr9:93645567-93645568	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs371595291	chr9:93645568-93645569	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs368437024	chr9:93645651-93645652	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79006601	chr9:93645670-93645671	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93626000-93647800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:93630000-93644800	Weak transcription	Pancreas	Pancrea
3	chr9:93633400-93645800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr9:93633800-93645400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:93634000-93645800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr9:93634000-93646200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:93634000-93646400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:93634000-93666200	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr9:93634400-93646600	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr9:93635600-93646200	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr9:93636400-93650600	Weak transcription	Liver	Liver
12	chr9:93638800-93646800	Strong transcription	Duodenum Mucosa	Duodenum
13	chr9:93639400-93645600	Strong transcription	Thymus	Thymus
14	chr9:93639400-93645800	Strong transcription	Fetal Thymus	thymus
15	chr9:93639400-93646200	Strong transcription	Fetal Stomach	stomach
16	chr9:93639400-93646400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr9:93639400-93647000	Weak transcription	HMEC	breast
18	chr9:93640000-93646400	Strong transcription	Primary hematopoietic stem cells	blood
19	chr9:93641200-93645600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:93641200-93657200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:93641400-93646200	Weak transcription	NHEK	skin
22	chr9:93641600-93644800	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr9:93641800-93646200	Weak transcription	K562	blood
24	chr9:93642400-93646400	Strong transcription	Fetal Intestine Small	intestine
25	chr9:93642600-93646200	Weak transcription	Fetal Kidney	kidney
26	chr9:93643000-93646800	Weak transcription	Right Ventricle	heart
27	chr9:93643000-93666600	Weak transcription	Stomach Mucosa	stomach
28	chr9:93643200-93656800	Weak transcription	Small Intestine	intestine
29	chr9:93643200-93663400	Weak transcription	Adipose Nuclei	Adipose
30	chr9:93643400-93645200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:93643400-93645200	Weak transcription	Fetal Intestine Large	intestine
32	chr9:93643400-93645200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:93643400-93645400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr9:93643400-93645400	Weak transcription	Lung	lung
35	chr9:93643400-93645600	Weak transcription	Colonic Mucosa	Colon
36	chr9:93643400-93646800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:93643400-93651800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:93643400-93652800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:93643600-93665400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr9:93644000-93644800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr9:93644200-93645800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:93644400-93645400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr9:93644600-93646000	Strong transcription	Gastric	stomach
44	chr9:93644600-93646000	Weak transcription	GM12878-XiMat	blood
45	chr9:93644600-93646200	Strong transcription	Esophagus	oesophagus
46	chr9:93644600-93646200	Strong transcription	Spleen	Spleen
47	chr9:93644600-93646600	Strong transcription	Primary B cells from cord blood	blood
48	chr9:93644800-93646400	Strong transcription	Primary B cells from peripheral blood	blood
49	chr9:93644800-93646400	Strong transcription	Pancreas	Pancrea
50	chr9:93645200-93646200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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