Variant report

Variant	esv1798883
Chromosome Location	chr15:100124483-100153969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:100126180..100128744-chr15:100133300..100136114,2	K562	blood:
2	chr15:100104168..100106136-chr15:100128783..100130549,3	MCF-7	breast:
3	chr15:100146443..100148301-chr15:100152610..100154386,2	MCF-7	breast:
4	chr15:100105039..100107202-chr15:100131797..100134740,2	MCF-7	breast:
5	chr15:100104968..100106924-chr15:100126083..100127916,2	MCF-7	breast:
6	chr15:100142017..100143605-chr15:100156751..100158277,2	MCF-7	breast:
7	chr15:100146443..100148301-chr15:100152610..100154386,2	MCF-7	breast:
8	chr15:100105483..100108332-chr15:100137310..100139257,2	MCF-7	breast:
9	chr15:100151549..100153058-chr15:100155251..100157136,2	MCF-7	breast:
10	chr15:100148518..100150039-chr15:100155372..100157267,2	MCF-7	breast:
11	chr15:100126180..100128744-chr15:100133300..100136114,2	K562	blood:
12	chr15:99948631..99950805-chr15:100153730..100155690,2	MCF-7	breast:
13	chr15:100103927..100106975-chr15:100145864..100148026,3	MCF-7	breast:
14	chr15:100108428..100111267-chr15:100125449..100127723,2	K562	blood:
15	chr15:100117617..100121955-chr15:100124250..100127287,4	K562	blood:
16	chr15:100108357..100110961-chr15:100129554..100131532,2	MCF-7	breast:
17	chr15:100105377..100107191-chr15:100123096..100125777,2	K562	blood:
18	chr15:100108232..100110845-chr15:100132819..100134406,2	K562	blood:
19	chr15:100132951..100135740-chr15:100177101..100179599,2	K562	blood:
20	chr15:100124558..100126222-chr15:100127468..100129405,2	MCF-7	breast:
21	chr15:100124558..100126222-chr15:100127468..100129405,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2054N24.2.1-7	chr15:100138635-100138716	NONHSAT050874
2	lnc-CTD-2054N24.2.1-7	chr15:100138636-100138716	NONHSAT050876

No data

Variant related genes	Relation type
ENSG00000068305	chromatin interactions

Extended variants
information (count: 1090 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1090 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185657253	chr15:100124551-100124552	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537479941	chr15:100124560-100124561	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561769566	chr15:100124567-100124568	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558662538	chr15:100124623-100124624	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543545988	chr15:100124634-100124635	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541185402	chr15:100124647-100124648	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190184915	chr15:100124662-100124663	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530381041	chr15:100124689-100124690	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs571922762	chr15:100124719-100124720	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542406159	chr15:100124752-100124753	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560898361	chr15:100124818-100124819	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115346532	chr15:100124830-100124831	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144290633	chr15:100124838-100124839	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs181756536	chr15:100124850-100124851	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532104908	chr15:100124883-100124884	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34316601	chr15:100124913-100124914	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368622357	chr15:100124917-100124918	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184913592	chr15:100124933-100124934	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs548777963	chr15:100124954-100124955	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs532981459	chr15:100124960-100124961	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537357958	chr15:100124965-100124966	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs371438992	chr15:100125013-100125014	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141200879	chr15:100125055-100125056	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557885000	chr15:100125068-100125069	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368666220	chr15:100125085-100125086	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570758415	chr15:100125099-100125100	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145170287	chr15:100125122-100125123	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553094619	chr15:100125177-100125178	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188739639	chr15:100125258-100125259	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536072983	chr15:100125307-100125308	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181165443	chr15:100125326-100125327	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546417031	chr15:100125347-100125348	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566315043	chr15:100125349-100125350	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535981962	chr15:100125383-100125384	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs558656920	chr15:100125415-100125416	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145850277	chr15:100125455-100125456	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs75808305	chr15:100125492-100125493	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185329188	chr15:100125518-100125519	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541024727	chr15:100125525-100125526	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs12442313	chr15:100125556-100125557	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs529337304	chr15:100125578-100125579	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565909300	chr15:100125621-100125622	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs189803645	chr15:100125639-100125640	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs548272042	chr15:100125657-100125658	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568008579	chr15:100125661-100125662	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182317938	chr15:100125687-100125688	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373556097	chr15:100125688-100125689	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2581466	chr15:100125756-100125757	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs187273021	chr15:100125766-100125767	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537808179	chr15:100125782-100125783	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	20811773	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Emphysema	19352772	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17142309	CNVD
Schizophrenia	23813976	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:884 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100107400-100134200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:100107400-100134200	Weak transcription	Pancreas	Pancrea
3	chr15:100107800-100124800	Weak transcription	Fetal Stomach	stomach
4	chr15:100108000-100142000	Weak transcription	Thymus	Thymus
5	chr15:100108200-100125200	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:100108400-100124600	Weak transcription	Brain Germinal Matrix	brain
7	chr15:100109000-100140200	Weak transcription	Hela-S3	cervix
8	chr15:100109600-100125800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr15:100109600-100126200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr15:100109600-100132200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr15:100115000-100138800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:100118800-100132200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:100118800-100139800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:100120400-100124800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:100120400-100134200	Weak transcription	Aorta	Aorta
16	chr15:100120600-100124800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:100120600-100128400	Weak transcription	Fetal Thymus	thymus
18	chr15:100120600-100132800	Weak transcription	Left Ventricle	heart
19	chr15:100120800-100124600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr15:100120800-100124600	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:100120800-100125000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr15:100120800-100125800	Weak transcription	NHDF-Ad	bronchial
23	chr15:100120800-100131200	Weak transcription	Right Ventricle	heart
24	chr15:100120800-100140200	Weak transcription	HSMM	muscle
25	chr15:100120800-100142600	Weak transcription	Ovary	ovary
26	chr15:100121000-100131200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr15:100121600-100127000	Weak transcription	Primary T cells from cord blood	blood
28	chr15:100121800-100124600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:100122000-100136400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr15:100122400-100127200	ZNF genes & repeats	GM12878-XiMat	blood
31	chr15:100122600-100126200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:100122600-100126200	Weak transcription	Brain Substantia Nigra	brain
33	chr15:100123000-100126200	Weak transcription	Liver	Liver
34	chr15:100123000-100131600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:100123200-100124600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr15:100123200-100136800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:100123400-100125800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:100123600-100125400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr15:100123800-100131400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr15:100124000-100124600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr15:100124000-100124600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:100124000-100124600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:100124000-100124600	Enhancers	NHEK	skin
44	chr15:100124000-100124800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:100124000-100125000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:100124000-100125000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:100124000-100125800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr15:100124000-100126800	ZNF genes & repeats	Dnd41	blood
49	chr15:100124000-100128400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:100124200-100124600	Weak transcription	Fetal Lung	lung

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