Variant report

Variant	esv3699
Chromosome Location	chr15:51897658-51898316
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	IRF1	chr15:51898186-51898286	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:51893271..51898734-chr15:51911463..51916763,7	K562	blood:
2	chr15:51896366..51899054-chr15:52579042..52581024,2	MCF-7	breast:

Variant related genes	Relation type
DMXL2	TF binding region
ENSG00000104093	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573405823	chr15:51897688-51897689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192469832	chr15:51897689-51897690	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527853962	chr15:51897698-51897699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs58113467	chr15:51897751-51897752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371694911	chr15:51897764-51897765	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs374689547	chr15:51897781-51897782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs540659477	chr15:51897801-51897802	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562053178	chr15:51897805-51897806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12441969	chr15:51897826-51897827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
10	rs183650550	chr15:51897833-51897834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs369758406	chr15:51897931-51897932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373988701	chr15:51897942-51897943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369261515	chr15:51897947-51897948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372768698	chr15:51897954-51897955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376095083	chr15:51897962-51897963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186878162	chr15:51897964-51897965	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs191292859	chr15:51897973-51897974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182242319	chr15:51897983-51897984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187284282	chr15:51897987-51897988	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs567935838	chr15:51897990-51897991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79394561	chr15:51897997-51897998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs77245583	chr15:51898003-51898004	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76144151	chr15:51898015-51898016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs28570139	chr15:51898019-51898020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571711161	chr15:51898026-51898027	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs539045482	chr15:51898030-51898031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554260950	chr15:51898031-51898032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs572594167	chr15:51898033-51898034	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536411163	chr15:51898036-51898037	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370458838	chr15:51898039-51898040	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374984628	chr15:51898040-51898041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs9944241	chr15:51898058-51898059	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs192703826	chr15:51898106-51898107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs543397002	chr15:51898122-51898123	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143609251	chr15:51898165-51898166	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541079883	chr15:51898238-51898239	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576385204	chr15:51898297-51898298	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs544274740	chr15:51898303-51898304	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51889400-51909400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:51890000-51902000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:51891800-51903800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr15:51892600-51913000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:51893000-51911000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:51893800-51904000	Weak transcription	Fetal Stomach	stomach
7	chr15:51894000-51906000	Weak transcription	Dnd41	blood
8	chr15:51894800-51901600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr15:51895000-51911600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:51895200-51913000	Weak transcription	HMEC	breast
11	chr15:51895400-51898000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr15:51896000-51904000	Weak transcription	Lung	lung
13	chr15:51897200-51910800	Weak transcription	A549	lung
14	chr15:51898000-51898400	Strong transcription	Monocytes-CD14+_RO01746	blood

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