Variant report

Variant	esv2478815
Chromosome Location	chr15:83859638-83861062
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	chr15:83847020..83849873-chr15:83857644..83860590,3	K562	blood:
2	chr15:83854397..83857005-chr15:83860575..83862962,2	K562	blood:

Variant related genes	Relation type
ENSG00000259986	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554451110	chr15:83859661-83859662	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181066090	chr15:83859667-83859668	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185904985	chr15:83859680-83859681	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs188803989	chr15:83859760-83859761	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs62010249	chr15:83859836-83859837	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs529404011	chr15:83859853-83859854	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs562777769	chr15:83859900-83859901	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569298672	chr15:83859926-83859927	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200415980	chr15:83859953-83859954	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532011448	chr15:83859955-83859956	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377412886	chr15:83859978-83859979	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs552115403	chr15:83859984-83859985	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540157976	chr15:83859995-83859996	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534398125	chr15:83860024-83860025	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs370810977	chr15:83860047-83860048	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554109974	chr15:83860118-83860119	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567338205	chr15:83860151-83860152	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115045273	chr15:83860179-83860180	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs181175740	chr15:83860217-83860218	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558382094	chr15:83860230-83860231	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555711509	chr15:83860325-83860326	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs533414466	chr15:83860327-83860328	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs544857692	chr15:83860341-83860342	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576835397	chr15:83860379-83860380	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs558425554	chr15:83860386-83860387	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572291585	chr15:83860398-83860399	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541205262	chr15:83860437-83860438	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544190880	chr15:83860521-83860522	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560956173	chr15:83860535-83860536	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs186185712	chr15:83860542-83860543	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144544269	chr15:83860564-83860565	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs147435581	chr15:83860565-83860566	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139738300	chr15:83860590-83860591	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551843266	chr15:83860604-83860605	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369034282	chr15:83860688-83860689	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74725901	chr15:83860706-83860707	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563045912	chr15:83860778-83860779	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571898703	chr15:83860814-83860815	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528007245	chr15:83860818-83860819	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190509409	chr15:83860850-83860851	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113700704	chr15:83860916-83860917	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs150973418	chr15:83860924-83860925	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555848624	chr15:83860946-83860947	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569459076	chr15:83860964-83860965	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542445325	chr15:83860994-83860995	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538238662	chr15:83861033-83861034	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4258575	chr15:83861044-83861045	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs35006123	chr15:83861049-83861050	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183931194	chr15:83861050-83861051	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83832200-83865600	Weak transcription	HSMM	muscle
2	chr15:83834000-83860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:83836000-83870200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr15:83836400-83861600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:83837000-83873600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:83838000-83862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:83839200-83862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:83840000-83860200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:83840000-83867200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:83840000-83867200	Weak transcription	Fetal Brain Female	brain
11	chr15:83840200-83869200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr15:83840400-83861000	Weak transcription	HUVEC	blood vessel
13	chr15:83840600-83863400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:83841200-83872600	Weak transcription	Brain Germinal Matrix	brain
15	chr15:83841800-83870400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr15:83845600-83862000	Weak transcription	Right Ventricle	heart
17	chr15:83846400-83860800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:83847400-83873400	Weak transcription	Fetal Kidney	kidney
19	chr15:83848000-83862600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr15:83848200-83860600	Weak transcription	Left Ventricle	heart
21	chr15:83848200-83861600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr15:83849200-83860400	Weak transcription	HMEC	breast
23	chr15:83850800-83861200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:83852000-83861200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:83852400-83861800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:83853200-83860800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr15:83853200-83861200	Weak transcription	A549	lung
28	chr15:83853400-83862200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr15:83854200-83862600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:83854600-83864200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr15:83855800-83861200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:83856200-83859800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:83857000-83864200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:83858200-83863400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr15:83858800-83865600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr15:83859600-83861200	Weak transcription	GM12878-XiMat	blood
37	chr15:83859800-83861600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:83860200-83863000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:83860400-83861200	Enhancers	NHEK	skin
40	chr15:83860400-83861600	Enhancers	Fetal Heart	heart
41	chr15:83860400-83863800	Enhancers	HMEC	breast
42	chr15:83860600-83861000	Enhancers	Left Ventricle	heart
43	chr15:83860600-83864000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:83860800-83861000	Enhancers	Ovary	ovary
45	chr15:83860800-83861000	Enhancers	Right Atrium	heart
46	chr15:83860800-83862600	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr15:83860800-83864000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr15:83861000-83861600	Enhancers	Hela-S3	cervix
49	chr15:83861000-83862200	Weak transcription	Ovary	ovary
50	chr15:83861000-83862400	Enhancers	HUVEC	blood vessel

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