Variant report

Variant	esv3323523
Chromosome Location	chr10:26139880-26143583
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	chr10:26133253..26135370-chr10:26139828..26141918,2	K562	blood:

Extended variants
information (count: 152 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs189483091	chr10:26139893-26139894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569015519	chr10:26139937-26139938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182047801	chr10:26139965-26139966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551058797	chr10:26139997-26139998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141124352	chr10:26140031-26140032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150269315	chr10:26140065-26140066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10828886	chr10:26140066-26140067	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs145833146	chr10:26140083-26140084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538933749	chr10:26140084-26140085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs16926406	chr10:26140122-26140123	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs575790125	chr10:26140154-26140155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544431043	chr10:26140179-26140180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201731644	chr10:26140190-26140191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554656600	chr10:26140261-26140262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552843193	chr10:26140302-26140303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148976182	chr10:26140324-26140325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540253883	chr10:26140337-26140338	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377477256	chr10:26140347-26140348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185093250	chr10:26140371-26140372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373233480	chr10:26140413-26140414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532482370	chr10:26140450-26140451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546109202	chr10:26140451-26140452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200854546	chr10:26140459-26140460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111962977	chr10:26140466-26140467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531543716	chr10:26140471-26140472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145895007	chr10:26140507-26140508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375297802	chr10:26140522-26140523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181704659	chr10:26140535-26140536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528707250	chr10:26140566-26140567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186149364	chr10:26140567-26140568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138705265	chr10:26140589-26140590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142704038	chr10:26140637-26140638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191067580	chr10:26140662-26140663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370334046	chr10:26140671-26140672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146919014	chr10:26140676-26140677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201862101	chr10:26140679-26140680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147980879	chr10:26140682-26140683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141809371	chr10:26140691-26140692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554833199	chr10:26140710-26140711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs11014779	chr10:26140718-26140719	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs150584896	chr10:26140738-26140739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181377626	chr10:26140752-26140753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11014780	chr10:26140753-26140754	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs3006249	chr10:26140781-26140782	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs71495484	chr10:26140845-26140846	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531478860	chr10:26140898-26140899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs185920645	chr10:26140955-26140956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191215249	chr10:26140967-26140968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs72629708	chr10:26140968-26140969	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs116627000	chr10:26140994-26140995	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21525872	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26138000-26141400	Enhancers	Brain Germinal Matrix	brain
2	chr10:26138000-26142200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr10:26138600-26141600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:26138800-26141600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr10:26138800-26141800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr10:26138800-26142000	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr10:26138800-26142000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr10:26139400-26140400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr10:26139400-26140600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:26139600-26140600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr10:26140400-26141400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr10:26140400-26142000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:26140600-26141600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr10:26140600-26141800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr10:26140600-26141800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr10:26140800-26141400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr10:26140800-26141600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr10:26141200-26141800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:26141400-26144000	Weak transcription	Brain Germinal Matrix	brain
20	chr10:26141600-26144400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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