Variant report

Variant	esv3376567
Chromosome Location	chr15:57980485-57983033
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.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CGNL1-1	chr15:57982562-57984896	ENSG00000261699.1

Variant related genes	Relation type
GCOM1	TF binding region

Extended variants
information (count: 219 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:219 , 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	rs200957024	chr15:57980506-57980507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201178699	chr15:57980509-57980510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377079182	chr15:57980530-57980531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564069780	chr15:57980542-57980543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201962749	chr15:57980543-57980544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529316685	chr15:57980560-57980561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547999662	chr15:57980566-57980567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202071589	chr15:57980592-57980593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377741853	chr15:57980599-57980600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199516580	chr15:57980600-57980601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199853020	chr15:57980602-57980603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201139732	chr15:57980603-57980604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62000068	chr15:57980606-57980607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199938428	chr15:57980608-57980609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112565209	chr15:57980619-57980620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373985957	chr15:57980630-57980631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112920005	chr15:57980634-57980635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546721345	chr15:57980647-57980648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112076033	chr15:57980664-57980665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566730587	chr15:57980675-57980676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535864461	chr15:57980681-57980682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62000069	chr15:57980688-57980689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs549352776	chr15:57980694-57980695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370153784	chr15:57980695-57980696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184779949	chr15:57980720-57980721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200309752	chr15:57980724-57980725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111283553	chr15:57980726-57980727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548814698	chr15:57980753-57980754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201752740	chr15:57980755-57980756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568635146	chr15:57980759-57980760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200635654	chr15:57980761-57980762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201508189	chr15:57980762-57980763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201749596	chr15:57980765-57980766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569541761	chr15:57980770-57980771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62637733	chr15:57980782-57980783	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs36143865	chr15:57980785-57980786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374808572	chr15:57980786-57980787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571124570	chr15:57980800-57980801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187062920	chr15:57980808-57980809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62000071	chr15:57980812-57980813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553353388	chr15:57980814-57980815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566028220	chr15:57980815-57980816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369157499	chr15:57980816-57980817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535933485	chr15:57980830-57980831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62000072	chr15:57980842-57980843	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs575375431	chr15:57980844-57980845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567800939	chr15:57980845-57980846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148568232	chr15:57980846-57980847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191483183	chr15:57980868-57980869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557549186	chr15:57980869-57980870	Weak transcription	n/a	n/a	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:41 , 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
38	chr15:57982800-57983400	Enhancers	Aorta	Aorta
39	chr15:57983000-57983200	Strong transcription	Lung	lung
40	chr15:57983000-57983800	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr15:57983000-57983800	Enhancers	Right Ventricle	heart

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