Variant report

Variant	esv3438183
Chromosome Location	chr10:55968995-55994692
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	chr10:55968347..55970600-chr10:55971292..55973381,2	K562	blood:
2	chr10:55968347..55970600-chr10:55971292..55973381,2	K562	blood:

Extended variants
information (count: 199 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:199 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570997654	chr10:55987001-55987002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs374276805	chr10:55987046-55987047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs552655885	chr10:55987064-55987065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs572511191	chr10:55987066-55987067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs11004150	chr10:55987072-55987073	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs564878073	chr10:55987082-55987083	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs187587248	chr10:55987170-55987171	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs544106638	chr10:55987187-55987188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs116799041	chr10:55987265-55987266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs368734553	chr10:55987320-55987321	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs529328380	chr10:55987359-55987360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs138730567	chr10:55987437-55987438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565936285	chr10:55987447-55987448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528533378	chr10:55987464-55987465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552084951	chr10:55987471-55987472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189698560	chr10:55987498-55987499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556750235	chr10:55987507-55987508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7899144	chr10:55987553-55987554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557241197	chr10:55987562-55987563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144735117	chr10:55987591-55987592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7902567	chr10:55987620-55987621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs553081878	chr10:55987673-55987674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530284980	chr10:55987702-55987703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144120304	chr10:55987778-55987779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371403382	chr10:55987788-55987789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7899424	chr10:55987797-55987798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs182073272	chr10:55987806-55987807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7899428	chr10:55987808-55987809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560872318	chr10:55987837-55987838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7913738	chr10:55987847-55987848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542744990	chr10:55987861-55987862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186669859	chr10:55987863-55987864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145995707	chr10:55987880-55987881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564848357	chr10:55987883-55987884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551769622	chr10:55987910-55987911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7917047	chr10:55987934-55987935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs35661875	chr10:55987945-55987946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531073388	chr10:55987961-55987962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551262159	chr10:55987986-55987987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369636701	chr10:55987994-55987995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7906179	chr10:55988009-55988010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536891034	chr10:55988035-55988036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7918079	chr10:55988043-55988044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190001674	chr10:55988049-55988050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199779767	chr10:55988101-55988102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566259876	chr10:55988106-55988107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7902932	chr10:55988107-55988108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558088905	chr10:55988120-55988121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536122547	chr10:55988152-55988153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537746546	chr10:55988177-55988178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
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
Thoracic aortic aneurysm	21092924	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
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55987000-55987400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:55987400-55990800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:55988600-55990800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:55990800-55991400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:55990800-55991600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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