Variant report

Variant	esv15854
Chromosome Location	chr15:42989012-42995070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42983652..42985690-chr15:42986702..42989327,2	K562	blood:
2	chr15:42983549..42985784-chr15:42989459..42991340,2	K562	blood:

Extended variants
information (count: 257 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:257 , 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	rs577495734	chr15:42989037-42989038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538422559	chr15:42989042-42989043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551420701	chr15:42989044-42989045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61192504	chr15:42989060-42989061	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs537155002	chr15:42989257-42989258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575362514	chr15:42989281-42989282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567397005	chr15:42989289-42989290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536526397	chr15:42989308-42989309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559993843	chr15:42989321-42989322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553027493	chr15:42989434-42989435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573107990	chr15:42989466-42989467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538101798	chr15:42989469-42989470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144199480	chr15:42989486-42989487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574994645	chr15:42989522-42989523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548289854	chr15:42989625-42989626	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554569698	chr15:42989645-42989646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557732887	chr15:42989655-42989656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182392365	chr15:42989697-42989698	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543548830	chr15:42989717-42989718	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563535732	chr15:42989764-42989765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574177594	chr15:42989794-42989795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543287618	chr15:42989830-42989831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185430926	chr15:42989839-42989840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528787521	chr15:42989849-42989850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551357404	chr15:42989884-42989885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1877136	chr15:42989885-42989886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190287691	chr15:42989886-42989887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563110880	chr15:42989890-42989891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151023573	chr15:42989908-42989909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567440386	chr15:42989909-42989910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116318862	chr15:42989917-42989918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182475636	chr15:42989988-42989989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566602526	chr15:42990005-42990006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34029692	chr15:42990006-42990007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35841211	chr15:42990022-42990023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76506589	chr15:42990064-42990065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557720612	chr15:42990077-42990078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78081991	chr15:42990078-42990079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537124746	chr15:42990081-42990082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563878953	chr15:42990098-42990099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528267195	chr15:42990112-42990113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543084498	chr15:42990117-42990118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557206444	chr15:42990153-42990154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574092882	chr15:42990168-42990169	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542810182	chr15:42990200-42990201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559908416	chr15:42990228-42990229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78278998	chr15:42990231-42990232	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78831432	chr15:42990232-42990233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573451268	chr15:42990243-42990244	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113077367	chr15:42990258-42990259	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42908800-43015000	Weak transcription	Fetal Kidney	kidney
2	chr15:42949800-42999200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr15:42950400-42990200	Strong transcription	Fetal Stomach	stomach
4	chr15:42951000-42995000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr15:42952600-42995600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:42952800-42996000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:42953400-42992200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr15:42955000-42990200	Strong transcription	Fetal Muscle Leg	muscle
9	chr15:42961200-42989200	Strong transcription	Ovary	ovary
10	chr15:42961400-42990800	Strong transcription	Colon Smooth Muscle	Colon
11	chr15:42961600-42989200	Weak transcription	Pancreas	Pancrea
12	chr15:42966000-42992800	Strong transcription	Duodenum Smooth Muscle	Duodenum
13	chr15:42966600-42989200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr15:42968400-42992200	Weak transcription	Fetal Brain Male	brain
15	chr15:42968600-42996800	Weak transcription	Liver	Liver
16	chr15:42968600-42999000	Weak transcription	HUVEC	blood vessel
17	chr15:42970600-42990200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:42971400-42992600	Strong transcription	Adipose Nuclei	Adipose
19	chr15:42971600-42992400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:42973200-42991200	Strong transcription	Brain Germinal Matrix	brain
21	chr15:42973600-42992600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr15:42974400-42989200	Strong transcription	Left Ventricle	heart
23	chr15:42975600-43011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:42976600-42990400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr15:42976600-42992200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:42976600-42996800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr15:42976600-43015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:42977000-42999400	Weak transcription	HepG2	liver
29	chr15:42977000-43011600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:42977000-43016600	Weak transcription	Hela-S3	cervix
31	chr15:42978200-42989600	Weak transcription	Gastric	stomach
32	chr15:42978200-42989800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr15:42978200-42996800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr15:42978200-43010400	Weak transcription	Thymus	Thymus
35	chr15:42978400-42991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:42978600-42992400	Weak transcription	Small Intestine	intestine
37	chr15:42978800-43012000	Weak transcription	NH-A	brain
38	chr15:42979000-42992600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:42979200-42992400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:42979200-43011000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr15:42979600-43010000	Weak transcription	GM12878-XiMat	blood
42	chr15:42979800-43010600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr15:42980200-43002800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr15:42980400-43010400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr15:42980800-42992400	Weak transcription	Fetal Heart	heart
46	chr15:42981400-42999400	Weak transcription	HMEC	breast
47	chr15:42981400-43015000	Weak transcription	HSMM	muscle
48	chr15:42981600-42999400	Weak transcription	NHEK	skin
49	chr15:42981600-43009800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:42981600-43011000	Weak transcription	Duodenum Mucosa	Duodenum

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