Variant report

Variant	esv21377
Chromosome Location	chr15:59870181-59875342
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	CTCF	chr15:59870503-59870515	Lung_OC	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:59863927..59866813-chr15:59868427..59870301,2	MCF-7	breast:
2	chr15:59864429..59868014-chr15:59868994..59871431,3	K562	blood:
3	chr15:59867281..59869520-chr15:59873164..59876160,2	K562	blood:

Variant related genes	Relation type
RNA5SP396	TF binding region
ENSG00000200606	TF binding region
ENSG00000201704	chromatin interactions
ENSG00000200606	chromatin interactions

Extended variants
information (count: 277 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:277 , 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	rs540764606	chr15:59870197-59870198	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs147780197	chr15:59870233-59870234	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs537643166	chr15:59870258-59870259	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs4775187	chr15:59870308-59870309	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs192990495	chr15:59870360-59870361	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535220593	chr15:59870367-59870368	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs35461856	chr15:59870368-59870369	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs367840269	chr15:59870389-59870390	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs117647271	chr15:59870392-59870393	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs28613820	chr15:59870404-59870405	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147015291	chr15:59870409-59870410	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs184515002	chr15:59870410-59870411	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543579731	chr15:59870411-59870412	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs189172813	chr15:59870414-59870415	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs4775188	chr15:59870421-59870422	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs113446223	chr15:59870424-59870425	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs111799097	chr15:59870438-59870439	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559740576	chr15:59870447-59870448	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs533363023	chr15:59870525-59870526	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs532418263	chr15:59870526-59870527	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs551842960	chr15:59870558-59870559	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533687296	chr15:59870573-59870574	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs28630604	chr15:59870588-59870589	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549527754	chr15:59870590-59870591	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs567772180	chr15:59870604-59870605	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs535486597	chr15:59870628-59870629	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs530329275	chr15:59870648-59870649	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs56176302	chr15:59870681-59870682	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs553446295	chr15:59870713-59870714	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs565477675	chr15:59870734-59870735	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532581005	chr15:59870748-59870749	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs138803736	chr15:59870759-59870760	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs117697822	chr15:59870783-59870784	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs115177736	chr15:59870815-59870816	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs181871646	chr15:59870817-59870818	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs555501166	chr15:59870827-59870828	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs112710438	chr15:59870836-59870837	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573760425	chr15:59870841-59870842	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs28405302	chr15:59870856-59870857	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186314417	chr15:59870859-59870860	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190660764	chr15:59870861-59870862	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs538276405	chr15:59870872-59870873	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs148326586	chr15:59870876-59870877	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545400402	chr15:59870908-59870909	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs373556434	chr15:59870929-59870930	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs72751117	chr15:59870939-59870940	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs548707385	chr15:59870959-59870960	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs531202185	chr15:59870989-59870990	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs180725476	chr15:59871003-59871004	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553271499	chr15:59871035-59871036	Inactive region	Chromatin interactive region	2 gene(s)	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59871600-59879400	Weak transcription	Stomach Mucosa	stomach
2	chr15:59872200-59873000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr15:59875000-59875600	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr15:59875000-59876200	Enhancers	Duodenum Mucosa	Duodenum
5	chr15:59875200-59875400	Enhancers	Spleen	Spleen
6	chr15:59875200-59875600	Enhancers	Fetal Intestine Small	intestine
7	chr15:59875200-59875800	Enhancers	Rectal Mucosa Donor 31	rectum

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