Variant report

Variant	esv3311781
Chromosome Location	chr15:50946305-50947506
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	chr15:50939543..50942459-chr15:50946221..50948158,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188148131	chr15:50946337-50946338	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113352582	chr15:50946363-50946364	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138588532	chr15:50946369-50946370	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28372083	chr15:50946418-50946419	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191300979	chr15:50946419-50946420	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144433848	chr15:50946421-50946422	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183604624	chr15:50946422-50946423	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529849308	chr15:50946424-50946425	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548148053	chr15:50946441-50946442	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569523658	chr15:50946448-50946449	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530544832	chr15:50946449-50946450	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552148787	chr15:50946453-50946454	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570419524	chr15:50946457-50946458	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534508699	chr15:50946464-50946465	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552791782	chr15:50946468-50946469	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565817471	chr15:50946490-50946491	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536377759	chr15:50946568-50946569	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188538235	chr15:50946587-50946588	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576325617	chr15:50946589-50946590	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575980918	chr15:50946612-50946613	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148410701	chr15:50946617-50946618	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76382267	chr15:50946668-50946669	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200437171	chr15:50946750-50946751	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577658600	chr15:50946754-50946755	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541634469	chr15:50946759-50946760	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11636576	chr15:50946761-50946762	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530339654	chr15:50946809-50946810	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11070802	chr15:50946815-50946816	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs560116670	chr15:50946823-50946824	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372609801	chr15:50946826-50946827	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530377172	chr15:50946852-50946853	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552194769	chr15:50946921-50946922	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564027058	chr15:50946926-50946927	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192481777	chr15:50946955-50946956	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs35864924	chr15:50947030-50947031	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs397698666	chr15:50947037-50947038	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397961091	chr15:50947038-50947039	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546369993	chr15:50947039-50947040	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10775143	chr15:50947049-50947050	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535656281	chr15:50947070-50947071	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548354835	chr15:50947093-50947094	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570138667	chr15:50947116-50947117	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537048185	chr15:50947127-50947128	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567163148	chr15:50947151-50947152	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375919256	chr15:50947172-50947173	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71471507	chr15:50947176-50947177	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139289837	chr15:50947195-50947196	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78398021	chr15:50947197-50947198	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs75032997	chr15:50947198-50947199	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs78085494	chr15:50947200-50947201	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	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
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50846000-50950800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:50854600-50957400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr15:50869800-50967600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr15:50871600-50957600	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr15:50894400-50955600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:50895000-50954400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr15:50895200-50959000	Strong transcription	Liver	Liver
8	chr15:50906400-50977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:50908000-50961800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:50916000-50959200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:50917400-50946600	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr15:50917600-50957400	Strong transcription	Fetal Intestine Large	intestine
13	chr15:50918600-50951600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:50918800-50950000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:50918800-50951200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:50919200-50967800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:50921600-50967600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr15:50923400-50977600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:50923600-50977600	Weak transcription	Brain Substantia Nigra	brain
20	chr15:50925400-50948600	Weak transcription	NHLF	lung
21	chr15:50925800-50959000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:50926200-50950800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr15:50926200-50951400	Strong transcription	Left Ventricle	heart
24	chr15:50926200-50959200	Strong transcription	Fetal Intestine Small	intestine
25	chr15:50926200-50959600	Strong transcription	Fetal Stomach	stomach
26	chr15:50927400-50950200	Strong transcription	Fetal Thymus	thymus
27	chr15:50928800-50958400	Weak transcription	Esophagus	oesophagus
28	chr15:50929200-50969200	Weak transcription	Small Intestine	intestine
29	chr15:50930000-50968000	Weak transcription	Fetal Kidney	kidney
30	chr15:50932400-50952000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr15:50934600-50951600	Weak transcription	Colon Smooth Muscle	Colon
32	chr15:50935000-50975800	Weak transcription	Pancreas	Pancrea
33	chr15:50935200-50967600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr15:50935800-50947800	Weak transcription	Brain Anterior Caudate	brain
35	chr15:50936600-50947600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr15:50937200-50956000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr15:50937800-50946800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr15:50937800-50951000	Strong transcription	Osteobl	bone
39	chr15:50938000-50954800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:50938200-50949200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:50938400-50946600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:50938400-50955200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr15:50938800-50976200	Weak transcription	Gastric	stomach
44	chr15:50939400-50948400	Weak transcription	NH-A	brain
45	chr15:50939400-50948600	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:50939400-50975400	Weak transcription	Brain Angular Gyrus	brain
47	chr15:50939800-50950200	Strong transcription	Primary T cells from cord blood	blood
48	chr15:50940200-50948800	Strong transcription	Thymus	Thymus
49	chr15:50940600-50956400	Strong transcription	Dnd41	blood
50	chr15:50941000-50951600	Weak transcription	Fetal Brain Male	brain

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