Variant report

Variant	esv2761615
Chromosome Location	chr10:94538960-94545531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:94540362..94542725-chr10:94548038..94549947,2	K562	blood:
2	chr10:94531758..94535069-chr10:94536997..94539110,3	K562	blood:
3	chr10:94540147..94545458-chr10:94548038..94552843,7	K562	blood:
4	chr10:94542660..94545007-chr10:94545294..94547297,2	K562	blood:
5	chr10:94542660..94545007-chr10:94545294..94547297,2	K562	blood:
6	chr10:94536151..94539223-chr10:94580087..94583002,3	K562	blood:
7	chr10:94449785..94452666-chr10:94539359..94541248,2	K562	blood:

Variant related genes	Relation type
ENSG00000152804	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552190803	chr10:94539379-94539380	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557293040	chr10:94539382-94539383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs576127892	chr10:94539430-94539431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs368804653	chr10:94539431-94539432	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs11187179	chr10:94539453-94539454	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544859850	chr10:94539459-94539460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558380030	chr10:94539507-94539508	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571902552	chr10:94539527-94539528	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534631948	chr10:94539535-94539536	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144970143	chr10:94539579-94539580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111314392	chr10:94539621-94539622	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs185812026	chr10:94539655-94539656	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563234084	chr10:94539677-94539678	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532858098	chr10:94539687-94539688	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs188085674	chr10:94539735-94539736	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560028351	chr10:94539756-94539757	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528661596	chr10:94539763-94539764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs2488065	chr10:94539772-94539773	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7906778	chr10:94539797-94539798	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs36016244	chr10:94539816-94539817	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550705676	chr10:94539818-94539819	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7100065	chr10:94539828-94539829	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs180945101	chr10:94539855-94539856	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs7100186	chr10:94539856-94539857	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs34478558	chr10:94539873-94539874	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs534540056	chr10:94539903-94539904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554715981	chr10:94539999-94540000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs185455382	chr10:94540007-94540008	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375944032	chr10:94540027-94540028	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190254381	chr10:94540036-94540037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs148938623	chr10:94540045-94540046	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs76015547	chr10:94540054-94540055	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs368293938	chr10:94540125-94540126	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142860842	chr10:94540135-94540136	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2497337	chr10:94540286-94540287	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs548510920	chr10:94540287-94540288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181491471	chr10:94540378-94540379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs151069473	chr10:94540400-94540401	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553209198	chr10:94540407-94540408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140812151	chr10:94540443-94540444	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539428001	chr10:94540453-94540454	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12355562	chr10:94540455-94540456	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs565653638	chr10:94540486-94540487	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150143202	chr10:94540579-94540580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570960381	chr10:94540720-94540721	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554471545	chr10:94540745-94540746	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs574571550	chr10:94540768-94540769	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536786049	chr10:94540823-94540824	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186973743	chr10:94540834-94540835	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12358931	chr10:94540841-94540842	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Sezary syndrome	18413736	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94542000-94542600	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:94544800-94545000	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr10:94545000-94545200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:94545200-94547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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