Variant report

Variant	esv1812752
Chromosome Location	chr15:42988175-42994169
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: 244 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:244 , 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	rs7163324	chr15:42988175-42988176	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543716188	chr15:42988190-42988191	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557261358	chr15:42988192-42988193	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574008319	chr15:42988234-42988235	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542162259	chr15:42988250-42988251	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184219872	chr15:42988314-42988315	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150098816	chr15:42988333-42988334	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541214454	chr15:42988365-42988366	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564319628	chr15:42988382-42988383	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6493061	chr15:42988412-42988413	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs188846832	chr15:42988440-42988441	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs118185030	chr15:42988447-42988448	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529562711	chr15:42988475-42988476	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138643141	chr15:42988523-42988524	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs180854628	chr15:42988525-42988526	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186205314	chr15:42988565-42988566	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557912332	chr15:42988587-42988588	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571449066	chr15:42988609-42988610	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191917476	chr15:42988641-42988642	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551008074	chr15:42988665-42988666	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149312003	chr15:42988696-42988697	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573943088	chr15:42988706-42988707	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182452526	chr15:42988756-42988757	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144625209	chr15:42988783-42988784	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567215039	chr15:42988823-42988824	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555730811	chr15:42988849-42988850	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572378116	chr15:42988853-42988854	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139275104	chr15:42988857-42988858	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186637951	chr15:42988876-42988877	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190512413	chr15:42988894-42988895	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142591139	chr15:42988901-42988902	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563548233	chr15:42988907-42988908	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569851918	chr15:42988921-42988922	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114389162	chr15:42988931-42988932	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146328575	chr15:42988975-42988976	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139645550	chr15:42988976-42988977	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376202627	chr15:42988999-42989000	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs78373841	chr15:42989002-42989003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577495734	chr15:42989037-42989038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538422559	chr15:42989042-42989043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551420701	chr15:42989044-42989045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61192504	chr15:42989060-42989061	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs537155002	chr15:42989257-42989258	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575362514	chr15:42989281-42989282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567397005	chr15:42989289-42989290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536526397	chr15:42989308-42989309	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559993843	chr15:42989321-42989322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553027493	chr15:42989434-42989435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573107990	chr15:42989466-42989467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538101798	chr15:42989469-42989470	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:185 , 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	chr15:42966400-42988400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:42966400-42988600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:42966600-42989200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr15:42968400-42992200	Weak transcription	Fetal Brain Male	brain
17	chr15:42968600-42996800	Weak transcription	Liver	Liver
18	chr15:42968600-42999000	Weak transcription	HUVEC	blood vessel
19	chr15:42969400-42988400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr15:42970600-42990200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:42971400-42992600	Strong transcription	Adipose Nuclei	Adipose
22	chr15:42971600-42992400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:42973200-42991200	Strong transcription	Brain Germinal Matrix	brain
24	chr15:42973600-42988400	Strong transcription	Lung	lung
25	chr15:42973600-42989000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:42973600-42992600	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr15:42974400-42989200	Strong transcription	Left Ventricle	heart
28	chr15:42975600-43011400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr15:42976600-42989000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr15:42976600-42990400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr15:42976600-42992200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:42976600-42996800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr15:42976600-43015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr15:42977000-42999400	Weak transcription	HepG2	liver
35	chr15:42977000-43011600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr15:42977000-43016600	Weak transcription	Hela-S3	cervix
37	chr15:42978200-42989600	Weak transcription	Gastric	stomach
38	chr15:42978200-42989800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr15:42978200-42996800	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr15:42978200-43010400	Weak transcription	Thymus	Thymus
41	chr15:42978400-42991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:42978600-42992400	Weak transcription	Small Intestine	intestine
43	chr15:42978800-42988400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr15:42978800-43012000	Weak transcription	NH-A	brain
45	chr15:42979000-42992600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:42979200-42992400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:42979200-43011000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr15:42979600-43010000	Weak transcription	GM12878-XiMat	blood
49	chr15:42979800-43010600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:42980200-42988400	Strong transcription	Spleen	Spleen

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