Variant report

Variant	esv3423145
Chromosome Location	chr15:57979460-57982608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr15:57982293-57982420	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:57982552-57983136	A549	lung:	n/a	n/a
3	ZNF274	chr15:57981686-57982057	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57978162..57980432-chr15:57997971..58000164,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CGNL1-1	chr15:57982562-57984896	ENSG00000261699.1

Variant related genes	Relation type
GCOM1	TF binding region
ENSG00000255529	chromatin interactions

Extended variants
information (count: 295 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565934308	chr15:57979482-57979483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542444417	chr15:57979488-57979489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs72132158	chr15:57979494-57979495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188312854	chr15:57979507-57979508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368286239	chr15:57979528-57979529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566896610	chr15:57979540-57979541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376128042	chr15:57979557-57979558	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376279758	chr15:57979558-57979559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs369112038	chr15:57979565-57979566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs200028348	chr15:57979577-57979578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111217945	chr15:57979588-57979589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371755904	chr15:57979594-57979595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs554951440	chr15:57979595-57979596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs527798533	chr15:57979601-57979602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184999830	chr15:57979602-57979603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs575043672	chr15:57979604-57979605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556052978	chr15:57979608-57979609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541048434	chr15:57979610-57979611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs56695045	chr15:57979614-57979615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182116166	chr15:57979627-57979628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564529994	chr15:57979631-57979632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532300892	chr15:57979637-57979638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs200951927	chr15:57979638-57979639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186749829	chr15:57979644-57979645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191585670	chr15:57979651-57979652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552014710	chr15:57979661-57979662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs557276553	chr15:57979674-57979675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181313372	chr15:57979675-57979676	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs371489771	chr15:57979691-57979692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375176237	chr15:57979699-57979700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577349953	chr15:57979701-57979702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs62652909	chr15:57979722-57979723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185290711	chr15:57979770-57979771	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs189810893	chr15:57979772-57979773	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182099205	chr15:57979804-57979805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187900800	chr15:57979805-57979806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs191884309	chr15:57979835-57979836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs199601622	chr15:57979850-57979851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs202155451	chr15:57979857-57979858	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559913657	chr15:57979858-57979859	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs573057918	chr15:57979859-57979860	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541972032	chr15:57979861-57979862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183840087	chr15:57979863-57979864	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs561752532	chr15:57979891-57979892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562033823	chr15:57979892-57979893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs188329530	chr15:57979893-57979894	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550608546	chr15:57979899-57979900	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs193024606	chr15:57979923-57979924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs563731997	chr15:57979929-57979930	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs377514282	chr15:57979953-57979954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57933400-57982600	Weak transcription	Esophagus	oesophagus
2	chr15:57959600-57982600	Weak transcription	Lung	lung
3	chr15:57960800-57985000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:57968200-57983600	Weak transcription	Gastric	stomach
5	chr15:57973000-57984600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:57975600-57982600	Weak transcription	Right Atrium	heart
7	chr15:57975600-57986600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:57975800-57986400	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:57977200-57982600	Weak transcription	Adipose Nuclei	Adipose
10	chr15:57977200-57984800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:57977400-57982600	Weak transcription	Pancreas	Pancrea
12	chr15:57978200-57983600	Weak transcription	Spleen	Spleen
13	chr15:57978400-57982400	Weak transcription	Left Ventricle	heart
14	chr15:57978400-57983800	Weak transcription	Fetal Kidney	kidney
15	chr15:57978400-57984600	Weak transcription	Fetal Stomach	stomach
16	chr15:57978400-57985000	Weak transcription	Fetal Intestine Large	intestine
17	chr15:57978800-57982200	Weak transcription	Fetal Heart	heart
18	chr15:57978800-57982400	Weak transcription	Right Ventricle	heart
19	chr15:57978800-57984400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:57979200-57982400	Weak transcription	Ovary	ovary
21	chr15:57979200-57982800	Weak transcription	Aorta	Aorta
22	chr15:57979200-57983200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:57979200-57984600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:57979200-57984600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr15:57979200-57986200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr15:57979200-57998200	Weak transcription	Fetal Intestine Small	intestine
27	chr15:57982200-57983600	Genic enhancers	Fetal Heart	heart
28	chr15:57982200-57984600	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:57982400-57983000	Genic enhancers	Right Ventricle	heart
30	chr15:57982400-57983800	Enhancers	Ovary	ovary
31	chr15:57982400-57984000	Genic enhancers	Left Ventricle	heart
32	chr15:57982600-57983000	ZNF genes & repeats	Esophagus	oesophagus
33	chr15:57982600-57983000	ZNF genes & repeats	Lung	lung
34	chr15:57982600-57983600	Strong transcription	Adipose Nuclei	Adipose
35	chr15:57982600-57984800	Enhancers	Pancreas	Pancrea
36	chr15:57982600-57984800	Enhancers	Right Atrium	heart
37	chr15:57982600-57986200	Enhancers	Hela-S3	cervix

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