Variant report

Variant	esv3359306
Chromosome Location	chr15:50508110-50510058
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:50509820-50509970	GM12873	blood:	n/a	n/a
2	CTCF	chr15:50509820-50509970	GM12875	blood:	n/a	n/a
3	CTCF	chr15:50508479-50508557	GM10248	blood:	n/a	n/a
4	CTCF	chr15:50509800-50509950	GM12872	blood:	n/a	n/a
5	CTCF	chr15:50509760-50509910	MCF-7	breast:	n/a	n/a
6	CTCF	chr15:50509840-50509990	BE2_C	brain:	n/a	n/a
7	FOXA1	chr15:50507988-50508291	T-47D	breast:	n/a	n/a
8	FOXA1	chr15:50507908-50508386	T-47D	breast:	n/a	n/a
9	GATA3	chr15:50507875-50508305	T-47D	breast:	n/a	n/a
10	POLR2A	chr15:50509611-50509916	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr15:50509774-50509782	A549	lung:	n/a	n/a
12	TCF7L2	chr15:50508012-50508196	MCF-7	breast:	n/a	n/a
13	TCF7L2	chr15:50509723-50509870	Hela-S3	cervix:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50509233..50511343-chr15:50513627..50515657,3	MCF-7	breast:
2	chr15:50509683..50512226-chr15:50646397..50648633,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200605	TF binding region
ENSG00000244879	chromatin interactions
ENSG00000104064	chromatin interactions
ENSG00000200605	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537350993	chr15:50508128-50508129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180932426	chr15:50508182-50508183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569921828	chr15:50508218-50508219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562877087	chr15:50508259-50508260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147806167	chr15:50508305-50508306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148847423	chr15:50508327-50508328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566358035	chr15:50508352-50508353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186296863	chr15:50508391-50508392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548806260	chr15:50508428-50508429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191536235	chr15:50508453-50508454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577030872	chr15:50508458-50508459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567464313	chr15:50508485-50508486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556375048	chr15:50508501-50508502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376266869	chr15:50508527-50508528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571442897	chr15:50508556-50508557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538575097	chr15:50508572-50508573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553996406	chr15:50508707-50508708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201855182	chr15:50508751-50508752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371273005	chr15:50508792-50508793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12906728	chr15:50508799-50508800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12906729	chr15:50508801-50508802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373827918	chr15:50508808-50508809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2554882	chr15:50508809-50508810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113467698	chr15:50508811-50508812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201608799	chr15:50508817-50508818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183389137	chr15:50508830-50508831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59683706	chr15:50508844-50508845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs71124332	chr15:50508853-50508854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12906490	chr15:50508856-50508857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12907747	chr15:50508857-50508858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573161903	chr15:50508881-50508882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201202390	chr15:50509035-50509036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200312242	chr15:50509036-50509037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540619723	chr15:50509091-50509092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150212940	chr15:50509145-50509146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188497398	chr15:50509210-50509211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190509991	chr15:50509258-50509259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs28667622	chr15:50509289-50509290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183138879	chr15:50509302-50509303	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs533534165	chr15:50509303-50509304	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs74200854	chr15:50509306-50509307	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148351224	chr15:50509309-50509310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368930022	chr15:50509312-50509313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs375056133	chr15:50509370-50509371	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370403790	chr15:50509384-50509385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535995536	chr15:50509403-50509404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs28431947	chr15:50509525-50509526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527339446	chr15:50509548-50509549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12913823	chr15:50509591-50509592	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs187810718	chr15:50509627-50509628	Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50498000-50515200	Weak transcription	K562	blood
2	chr15:50503200-50514400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr15:50503600-50511800	Weak transcription	Hela-S3	cervix
4	chr15:50503600-50513400	Weak transcription	Stomach Mucosa	stomach
5	chr15:50503600-50515600	Weak transcription	A549	lung
6	chr15:50503600-50519800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:50503600-50539800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr15:50503800-50515000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:50504000-50511800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:50504400-50512800	Weak transcription	Fetal Intestine Small	intestine
11	chr15:50504800-50512400	Weak transcription	Liver	Liver
12	chr15:50505200-50514400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:50505800-50511400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:50507800-50508600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr15:50508000-50515000	Weak transcription	HepG2	liver
16	chr15:50508000-50539800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:50508600-50513000	Weak transcription	Rectal Mucosa Donor 31	rectum

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