Variant report

Variant	esv3531002
Chromosome Location	chr10:93631372-93636470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:93630115..93633090-chr10:93633153..93635901,2	K562	blood:
2	chr10:93628714..93630767-chr10:93634147..93636054,2	K562	blood:
3	chr10:93627211..93629646-chr10:93632804..93634788,2	MCF-7	breast:
4	chr10:93630115..93633090-chr10:93633153..93635901,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181163080	chr10:93631397-93631398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs376066089	chr10:93631423-93631424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185604395	chr10:93631456-93631457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538905560	chr10:93631474-93631475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374433988	chr10:93631496-93631497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565341884	chr10:93631512-93631513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534311396	chr10:93631513-93631514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554681206	chr10:93631571-93631572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574425446	chr10:93631575-93631576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188850261	chr10:93631639-93631640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543475383	chr10:93631653-93631654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200677612	chr10:93631694-93631695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58945103	chr10:93631738-93631739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577472642	chr10:93631787-93631788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11186719	chr10:93631956-93631957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs560084643	chr10:93631972-93631973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528528580	chr10:93632022-93632023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541842527	chr10:93632055-93632056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557418046	chr10:93632056-93632057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56367452	chr10:93632078-93632079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs530931198	chr10:93632109-93632110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4390259	chr10:93632142-93632143	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs181800577	chr10:93632175-93632176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs532131773	chr10:93632205-93632206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187237814	chr10:93632216-93632217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572615409	chr10:93632256-93632257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs578256385	chr10:93632257-93632258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs59599276	chr10:93632274-93632275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200100187	chr10:93632276-93632277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56880280	chr10:93632325-93632326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113959819	chr10:93632351-93632352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545998068	chr10:93632360-93632361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554287812	chr10:93632407-93632408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74330803	chr10:93632408-93632409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4317898	chr10:93632447-93632448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536754542	chr10:93632465-93632466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557048652	chr10:93632466-93632467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577559292	chr10:93632591-93632592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182606171	chr10:93632643-93632644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531664585	chr10:93632688-93632689	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544178636	chr10:93632692-93632693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185287140	chr10:93632703-93632704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573437256	chr10:93632723-93632724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs542482164	chr10:93632762-93632763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189996540	chr10:93632841-93632842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs145304950	chr10:93632843-93632844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202244335	chr10:93632850-93632851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373337286	chr10:93632851-93632852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200638648	chr10:93632852-93632853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561957184	chr10:93632856-93632857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:93599600-93634600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:93608800-93639200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:93608800-93643400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:93618400-93639400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr10:93622600-93639000	Weak transcription	Brain Germinal Matrix	brain
6	chr10:93622800-93639200	Weak transcription	Brain Angular Gyrus	brain
7	chr10:93624200-93634400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr10:93624200-93639200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:93625800-93632200	Weak transcription	HSMM	muscle
10	chr10:93625800-93634400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr10:93625800-93639000	Weak transcription	Fetal Brain Female	brain
12	chr10:93626200-93634800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr10:93626200-93639600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:93626200-93643000	Weak transcription	HSMMtube	muscle
15	chr10:93627000-93634400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:93627600-93639000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:93627600-93639600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:93627800-93639000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:93629200-93631600	Weak transcription	Placenta	Placenta
20	chr10:93629600-93634600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:93629600-93634800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:93629600-93638800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:93629600-93639000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr10:93629600-93639200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr10:93631000-93631800	Enhancers	HepG2	liver
26	chr10:93631600-93632800	Enhancers	Placenta	Placenta
27	chr10:93632200-93632400	Enhancers	HSMM	muscle
28	chr10:93632800-93639200	Weak transcription	Placenta	Placenta
29	chr10:93634400-93634800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:93634400-93634800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr10:93634400-93634800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr10:93634400-93634800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr10:93634600-93635000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:93634600-93635200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr10:93634800-93635000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr10:93634800-93635200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr10:93634800-93639000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr10:93634800-93639000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr10:93634800-93639000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr10:93635000-93635400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr10:93635000-93643200	Weak transcription	Right Atrium	heart
42	chr10:93635200-93639200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr10:93635400-93636000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr10:93636000-93637400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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