Variant report

Variant	esv3390956
Chromosome Location	chr9:93659631-93663929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93663803..93666735-chr9:93669884..93671641,2	K562	blood:
2	chr9:93659554..93661480-chr9:93674408..93675974,2	MCF-7	breast:
3	chr9:92903834..92904665-chr9:93660281..93661139,2	MCF-7	breast:
4	chr9:93663200..93663867-chr9:93823355..93823902,2	MCF-7	breast:
5	chr9:93655595..93658492-chr9:93659602..93661599,2	MCF-7	breast:
6	chr9:93658100..93659896-chr9:94439302..94442236,2	MCF-7	breast:

Extended variants
information (count: 258 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201711043	chr9:93659663-93659664	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199822713	chr9:93659683-93659684	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201323598	chr9:93659686-93659687	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202054985	chr9:93659703-93659704	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200437396	chr9:93659707-93659708	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17568705	chr9:93659715-93659716	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201899168	chr9:93659716-93659717	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200311317	chr9:93659732-93659733	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554920961	chr9:93659734-93659735	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201177408	chr9:93659750-93659751	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35758629	chr9:93659754-93659755	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199604777	chr9:93659769-93659770	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200219989	chr9:93659780-93659781	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574978587	chr9:93659781-93659782	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201716941	chr9:93659796-93659797	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199714639	chr9:93659802-93659803	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540465583	chr9:93659840-93659841	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148015317	chr9:93659848-93659849	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200634194	chr9:93659849-93659850	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201655256	chr9:93659855-93659856	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199537078	chr9:93659861-93659862	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371399205	chr9:93659864-93659865	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200782311	chr9:93659866-93659867	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201768739	chr9:93659876-93659877	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199976134	chr9:93659887-93659888	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545867097	chr9:93659911-93659912	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200655648	chr9:93659917-93659918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202076504	chr9:93659945-93659946	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10217275	chr9:93659953-93659954	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200864082	chr9:93659955-93659956	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111798674	chr9:93659956-93659957	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201771764	chr9:93659969-93659970	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199911137	chr9:93659972-93659973	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200984283	chr9:93659976-93659977	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202058374	chr9:93659981-93659982	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200440991	chr9:93659985-93659986	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542111360	chr9:93659997-93659998	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561832367	chr9:93660006-93660007	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115781501	chr9:93660010-93660011	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202241782	chr9:93660017-93660018	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200430210	chr9:93660028-93660029	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201413796	chr9:93660029-93660030	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs199603436	chr9:93660055-93660056	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200481350	chr9:93660063-93660064	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201775735	chr9:93660082-93660083	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199695443	chr9:93660088-93660089	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200815743	chr9:93660112-93660113	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114553487	chr9:93660119-93660120	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199914885	chr9:93660128-93660129	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569674711	chr9:93660133-93660134	Weak transcription Enhancers Strong 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:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93634000-93666200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr9:93643000-93666600	Weak transcription	Stomach Mucosa	stomach
3	chr9:93643200-93663400	Weak transcription	Adipose Nuclei	Adipose
4	chr9:93643600-93665400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:93646200-93664800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr9:93647200-93663400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr9:93647400-93666600	Strong transcription	Primary B cells from cord blood	blood
8	chr9:93647600-93662000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:93647600-93664800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr9:93647800-93662000	Strong transcription	Fetal Thymus	thymus
11	chr9:93648000-93662400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr9:93648200-93663200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:93648200-93665000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:93648600-93661000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr9:93648800-93663200	Strong transcription	Thymus	Thymus
16	chr9:93650000-93660800	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr9:93650000-93661200	Strong transcription	Fetal Intestine Small	intestine
18	chr9:93650000-93661400	Strong transcription	Fetal Stomach	stomach
19	chr9:93650000-93662600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr9:93651600-93661600	Weak transcription	Fetal Kidney	kidney
21	chr9:93651600-93664200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:93652600-93667200	Weak transcription	Gastric	stomach
23	chr9:93654000-93662000	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr9:93654000-93662200	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr9:93654000-93663200	Strong transcription	Spleen	Spleen
26	chr9:93655400-93663200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:93655400-93664000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr9:93656400-93661600	Weak transcription	Pancreas	Pancrea
29	chr9:93656800-93660400	Strong transcription	GM12878-XiMat	blood
30	chr9:93656800-93662000	Strong transcription	Primary hematopoietic stem cells	blood
31	chr9:93657600-93660400	Strong transcription	Colonic Mucosa	Colon
32	chr9:93657800-93660600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr9:93658000-93662200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr9:93658000-93664000	Weak transcription	Lung	lung
35	chr9:93658200-93662000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:93658200-93662200	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:93658800-93660800	Strong transcription	Esophagus	oesophagus
38	chr9:93658800-93661600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr9:93658800-93663000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:93658800-93683400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr9:93659000-93660200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr9:93659200-93661000	Weak transcription	Fetal Intestine Large	intestine
43	chr9:93660400-93660600	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr9:93660400-93662000	Weak transcription	Colonic Mucosa	Colon
45	chr9:93660400-93671400	Weak transcription	GM12878-XiMat	blood
46	chr9:93660800-93661400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr9:93660800-93665600	Weak transcription	Esophagus	oesophagus
48	chr9:93661000-93664600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr9:93661200-93663800	Weak transcription	Fetal Intestine Small	intestine
50	chr9:93661400-93662000	Strong transcription	Rectal Mucosa Donor 31	rectum

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