Variant report

Variant	esv3372381
Chromosome Location	chr15:59831110-59832658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 162 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:162 , 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	rs571252634	chr15:59831138-59831139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538245618	chr15:59831163-59831164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373432975	chr15:59831207-59831208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs148818463	chr15:59831307-59831308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557064303	chr15:59831332-59831333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574996180	chr15:59831333-59831334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs199885545	chr15:59831351-59831352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150663833	chr15:59831381-59831382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533842459	chr15:59831401-59831402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148631117	chr15:59831406-59831407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572681211	chr15:59831418-59831419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139900256	chr15:59831419-59831420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553601596	chr15:59831421-59831422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201189905	chr15:59831424-59831425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577216893	chr15:59831425-59831426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28677025	chr15:59831442-59831443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544287301	chr15:59831444-59831445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377171642	chr15:59831447-59831448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530235153	chr15:59831455-59831456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142495752	chr15:59831457-59831458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570331859	chr15:59831460-59831461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375275600	chr15:59831466-59831467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371489021	chr15:59831472-59831473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542313446	chr15:59831477-59831478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546012651	chr15:59831478-59831479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377623287	chr15:59831479-59831480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372360567	chr15:59831481-59831482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79772212	chr15:59831482-59831483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113359875	chr15:59831491-59831492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182713346	chr15:59831493-59831494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201661392	chr15:59831494-59831495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372963924	chr15:59831496-59831497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560694536	chr15:59831499-59831500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531754542	chr15:59831502-59831503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34815589	chr15:59831503-59831504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187522715	chr15:59831517-59831518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201191846	chr15:59831520-59831521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202003436	chr15:59831522-59831523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370367011	chr15:59831527-59831528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28605231	chr15:59831529-59831530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531984855	chr15:59831530-59831531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550314168	chr15:59831545-59831546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200780503	chr15:59831546-59831547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371015003	chr15:59831548-59831549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28421973	chr15:59831555-59831556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568478757	chr15:59831566-59831567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201895752	chr15:59831572-59831573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374619053	chr15:59831574-59831575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28416929	chr15:59831581-59831582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200343734	chr15:59831598-59831599	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
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
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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	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
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59825800-59832200	Weak transcription	A549	lung
2	chr15:59827800-59831200	Enhancers	GM12878-XiMat	blood
3	chr15:59827800-59835600	Weak transcription	Colonic Mucosa	Colon
4	chr15:59828200-59832400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr15:59828200-59832600	Weak transcription	Fetal Intestine Small	intestine
6	chr15:59828800-59832600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr15:59830000-59832200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr15:59830000-59832200	Weak transcription	Hela-S3	cervix
9	chr15:59830000-59832600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr15:59830000-59832800	Weak transcription	Stomach Mucosa	stomach
11	chr15:59831000-59835400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr15:59831200-59832400	Weak transcription	GM12878-XiMat	blood
13	chr15:59832000-59834000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr15:59832200-59833200	Enhancers	A549	lung
15	chr15:59832200-59833200	Enhancers	K562	blood
16	chr15:59832200-59833400	Enhancers	Hela-S3	cervix
17	chr15:59832200-59833800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr15:59832200-59834200	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr15:59832400-59832600	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr15:59832400-59833000	Enhancers	Duodenum Mucosa	Duodenum
21	chr15:59832400-59833000	Enhancers	GM12878-XiMat	blood
22	chr15:59832600-59833000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr15:59832600-59833000	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr15:59832600-59834000	Enhancers	Fetal Intestine Small	intestine

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