Variant report

Variant	nsv94710
Chromosome Location	chr15:57641448-57651145
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 507 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:507 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574356756	chr15:57641460-57641461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543018734	chr15:57641468-57641469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190099271	chr15:57641490-57641491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142333208	chr15:57641491-57641492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545604960	chr15:57641502-57641503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12594586	chr15:57641536-57641537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7496173	chr15:57641538-57641539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs12594588	chr15:57641539-57641540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527828811	chr15:57641586-57641587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541494798	chr15:57641592-57641593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529924545	chr15:57641617-57641618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs539932791	chr15:57641619-57641620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147895795	chr15:57641645-57641646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548265462	chr15:57641663-57641664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377709637	chr15:57641673-57641674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371107681	chr15:57641674-57641675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530128193	chr15:57641679-57641680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550150828	chr15:57641692-57641693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570372679	chr15:57641705-57641706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143738530	chr15:57641719-57641720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369950861	chr15:57641764-57641765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552848332	chr15:57641766-57641767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142029480	chr15:57641771-57641772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs118106417	chr15:57641795-57641796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145153658	chr15:57641837-57641838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568036466	chr15:57641853-57641854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181346271	chr15:57641854-57641855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111975189	chr15:57641890-57641891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556501401	chr15:57641930-57641931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186350909	chr15:57641948-57641949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12442024	chr15:57641955-57641956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs137897078	chr15:57641979-57641980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117742906	chr15:57641983-57641984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189881625	chr15:57642031-57642032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561436583	chr15:57642037-57642038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79441907	chr15:57642055-57642056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142319520	chr15:57642170-57642171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532881054	chr15:57642193-57642194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115017499	chr15:57642221-57642222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116815540	chr15:57642225-57642226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559759533	chr15:57642236-57642237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145973779	chr15:57642268-57642269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548448237	chr15:57642301-57642302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139492610	chr15:57642386-57642387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149299286	chr15:57642425-57642426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72736077	chr15:57642525-57642526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs200885209	chr15:57642533-57642534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535584867	chr15:57642546-57642547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs67851561	chr15:57642548-57642549	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560157760	chr15:57642553-57642554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57627600-57668200	Weak transcription	Right Atrium	heart
2	chr15:57636200-57647200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:57636800-57643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:57638400-57645000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:57638400-57645600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:57638600-57644000	Weak transcription	HepG2	liver
7	chr15:57638600-57645200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:57638600-57647200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:57638800-57642000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr15:57642000-57642200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr15:57642200-57644600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr15:57643600-57645400	Enhancers	Fetal Muscle Trunk	muscle
13	chr15:57643600-57646000	Enhancers	Fetal Muscle Leg	muscle
14	chr15:57643600-57646400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:57644000-57644400	Enhancers	HepG2	liver
16	chr15:57644000-57645000	Weak transcription	Fetal Kidney	kidney
17	chr15:57644200-57644400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr15:57644200-57647800	Enhancers	Fetal Heart	heart
19	chr15:57644400-57644600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:57644400-57645200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:57644400-57645400	Flanking Active TSS	HepG2	liver
22	chr15:57644400-57646000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr15:57644400-57649800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:57644600-57644800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr15:57644600-57646200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:57644600-57646200	Enhancers	Placenta	Placenta
27	chr15:57644800-57645600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr15:57645000-57645200	Enhancers	Fetal Kidney	kidney
29	chr15:57645000-57645400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr15:57645000-57645400	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr15:57645200-57645400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr15:57645200-57645600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:57645200-57646000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr15:57645200-57646200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr15:57645200-57646200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:57645200-57646200	Enhancers	Fetal Stomach	stomach
37	chr15:57645200-57646400	Weak transcription	Fetal Kidney	kidney
38	chr15:57645200-57646600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:57645400-57646000	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr15:57645400-57646200	Enhancers	Fetal Intestine Small	intestine
41	chr15:57645400-57646400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr15:57645400-57648000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:57645400-57648200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:57645600-57645800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr15:57645600-57646000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:57645600-57646200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr15:57645600-57646600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr15:57645800-57646000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:57645800-57646400	Enhancers	Fetal Intestine Large	intestine
50	chr15:57645800-57646800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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