Variant report

Variant	esv3355345
Chromosome Location	chr15:59830485-59833033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 211 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569469647	chr15:59830502-59830503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536833437	chr15:59830515-59830516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548949719	chr15:59830522-59830523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8029148	chr15:59830523-59830524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534455882	chr15:59830534-59830535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148287064	chr15:59830539-59830540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577535837	chr15:59830543-59830544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141968477	chr15:59830547-59830548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370097670	chr15:59830582-59830583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs146314874	chr15:59830590-59830591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199735154	chr15:59830619-59830620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542410097	chr15:59830631-59830632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs57476696	chr15:59830635-59830636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs397693182	chr15:59830641-59830642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117544957	chr15:59830642-59830643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560701738	chr15:59830651-59830652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374624367	chr15:59830679-59830680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541199065	chr15:59830685-59830686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374337255	chr15:59830746-59830747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376439906	chr15:59830800-59830801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34088848	chr15:59830806-59830807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532386494	chr15:59830822-59830823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113742483	chr15:59830841-59830842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574979004	chr15:59830842-59830843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56363840	chr15:59830875-59830876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs80069383	chr15:59830893-59830894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139756801	chr15:59830944-59830945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs61359626	chr15:59830983-59830984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186357217	chr15:59831011-59831012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs543848826	chr15:59831012-59831013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534517977	chr15:59831021-59831022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190134407	chr15:59831089-59831090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552570247	chr15:59831098-59831099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571252634	chr15:59831138-59831139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538245618	chr15:59831163-59831164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373432975	chr15:59831207-59831208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148818463	chr15:59831307-59831308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557064303	chr15:59831332-59831333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574996180	chr15:59831333-59831334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199885545	chr15:59831351-59831352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150663833	chr15:59831381-59831382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533842459	chr15:59831401-59831402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148631117	chr15:59831406-59831407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572681211	chr15:59831418-59831419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139900256	chr15:59831419-59831420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553601596	chr15:59831421-59831422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201189905	chr15:59831424-59831425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577216893	chr15:59831425-59831426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28677025	chr15:59831442-59831443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544287301	chr15:59831444-59831445	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59825800-59832200	Weak transcription	A549	lung
2	chr15:59827400-59831000	Enhancers	Primary B cells from peripheral blood	blood
3	chr15:59827800-59831200	Enhancers	GM12878-XiMat	blood
4	chr15:59827800-59835600	Weak transcription	Colonic Mucosa	Colon
5	chr15:59828200-59832400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr15:59828200-59832600	Weak transcription	Fetal Intestine Small	intestine
7	chr15:59828800-59832600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:59830000-59832200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:59830000-59832200	Weak transcription	Hela-S3	cervix
10	chr15:59830000-59832600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr15:59830000-59832800	Weak transcription	Stomach Mucosa	stomach
12	chr15:59831000-59835400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr15:59831200-59832400	Weak transcription	GM12878-XiMat	blood
14	chr15:59832000-59834000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr15:59832200-59833200	Enhancers	A549	lung
16	chr15:59832200-59833200	Enhancers	K562	blood
17	chr15:59832200-59833400	Enhancers	Hela-S3	cervix
18	chr15:59832200-59833800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr15:59832200-59834200	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr15:59832400-59832600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr15:59832400-59833000	Enhancers	Duodenum Mucosa	Duodenum
22	chr15:59832400-59833000	Enhancers	GM12878-XiMat	blood
23	chr15:59832600-59833000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr15:59832600-59833000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr15:59832600-59834000	Enhancers	Fetal Intestine Small	intestine
26	chr15:59832800-59833400	Enhancers	Stomach Mucosa	stomach
27	chr15:59833000-59834800	Weak transcription	GM12878-XiMat	blood
28	chr15:59833000-59835400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr15:59833000-59836000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:59833000-59836400	Weak transcription	Rectal Mucosa Donor 29	rectum

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