Variant report

Variant	esv2577640
Chromosome Location	chr10:92052015-92053408
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	chr10:92051318..92054074-chr10:92099394..92101764,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541668902	chr10:92052044-92052045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556766829	chr10:92052066-92052067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116233871	chr10:92052072-92052073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7919251	chr10:92052096-92052097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7919262	chr10:92052117-92052118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181249193	chr10:92052165-92052166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147621834	chr10:92052170-92052171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370217093	chr10:92052172-92052173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149081078	chr10:92052259-92052260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529040681	chr10:92052278-92052279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142878353	chr10:92052351-92052352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186273622	chr10:92052358-92052359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531619316	chr10:92052368-92052369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs7905038	chr10:92052377-92052378	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs190599144	chr10:92052391-92052392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs151056181	chr10:92052406-92052407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368849548	chr10:92052424-92052425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111300460	chr10:92052429-92052430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140938641	chr10:92052436-92052437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536810623	chr10:92052509-92052510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556592526	chr10:92052511-92052512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144947969	chr10:92052528-92052529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138809305	chr10:92052529-92052530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184088373	chr10:92052554-92052555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7922885	chr10:92052568-92052569	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs201222964	chr10:92052609-92052610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539957820	chr10:92052622-92052623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140746235	chr10:92052628-92052629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573770519	chr10:92052672-92052673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377560104	chr10:92052684-92052685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187603619	chr10:92052703-92052704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570240808	chr10:92052780-92052781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562668827	chr10:92052877-92052878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531486442	chr10:92052925-92052926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545038932	chr10:92052934-92052935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536109261	chr10:92052979-92052980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190580522	chr10:92052985-92052986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548462149	chr10:92053003-92053004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564934248	chr10:92053033-92053034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74148529	chr10:92053043-92053044	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs1887183	chr10:92053061-92053062	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs567713802	chr10:92053068-92053069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376951835	chr10:92053089-92053090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117482193	chr10:92053108-92053109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80261504	chr10:92053110-92053111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570406064	chr10:92053124-92053125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116602647	chr10:92053125-92053126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558268684	chr10:92053126-92053127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111820861	chr10:92053136-92053137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571274692	chr10:92053145-92053146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
T-cell acute lymphoblastic leukemia	19406988	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
Esophageal adenocarcinoma	18519675	CNVD
Colorectal cancer	19359472	CNVD
Neurocytoma	17123091	CNVD
Prostate cancer	16461572	CNVD
Basal-like breast cancer	18066063	CNVD
Effusion lymphoma	18079361	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	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
Sezary syndrome	18413736	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92048200-92053600	Weak transcription	Fetal Intestine Small	intestine
2	chr10:92048600-92053400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:92048800-92054200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr10:92049000-92054400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr10:92049000-92055000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr10:92049400-92053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:92049400-92053600	Weak transcription	NHEK	skin
8	chr10:92049800-92052600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr10:92050000-92054000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:92050600-92053400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr10:92050600-92054000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr10:92050800-92053600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr10:92051400-92052400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr10:92052400-92054600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr10:92052600-92053600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr10:92052800-92053000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:92053000-92055000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:92053400-92053600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:92053400-92053800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:92053400-92054000	Enhancers	HUES6 Cell Line	embryonic stem cell

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