Variant report

Variant	nsv904562
Chromosome Location	chr15:100214935-100237682
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:109)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:109 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:100222679-100222974	K562	blood:	n/a	n/a
2	ATF2	chr15:100217893-100218276	GM12878	blood:	n/a	n/a
3	ATF2	chr15:100217873-100218417	GM12878	blood:	n/a	n/a
4	BCL11A	chr15:100217941-100218235	GM12878	blood:	n/a	n/a
5	CEBPB	chr15:100222668-100223023	IMR90	lung:	n/a	chr15:100222824-100222836
6	CHD2	chr15:100218048-100218222	GM12878	blood:	n/a	n/a
7	CREB1	chr15:100222109-100222539	GM12878	blood:	n/a	n/a
8	CTCF	chr15:100230522-100230551	GM12878	blood:	n/a	n/a
9	CTCF	chr15:100230460-100230610	HEK293	kidney:	n/a	n/a
10	CTCF	chr15:100230463-100230652	MCF-7	breast:	n/a	n/a
11	CTCF	chr15:100233140-100233290	BE2_C	brain:	n/a	n/a
12	CTCF	chr15:100230481-100230639	MCF-7	breast:	n/a	n/a
13	CTCF	chr15:100230400-100230550	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr15:100230578-100230624	Gliobla	brain:	n/a	n/a
15	CTCF	chr15:100229150-100229196	Fibrobl	skin:	n/a	n/a
16	CTCF	chr15:100230500-100230503	GM12878	blood:	n/a	n/a
17	CTCF	chr15:100230470-100230540	K562	blood:	n/a	n/a
18	CTCF	chr15:100229929-100229971	GM20000	blood:	n/a	n/a
19	CTCF	chr15:100230380-100230530	MCF-7	breast:	n/a	n/a
20	CUX1	chr15:100217866-100218616	GM12878	blood:	n/a	n/a
21	CUX1	chr15:100233952-100233987	GM12878	blood:	n/a	n/a
22	EBF1	chr15:100218006-100218267	GM12878	blood:	n/a	n/a
23	EP300	chr15:100217921-100218301	GM12878	blood:	n/a	n/a
24	EP300	chr15:100226170-100226262	K562	blood:	n/a	n/a
25	EP300	chr15:100217904-100218313	GM12878	blood:	n/a	n/a
26	FOS	chr15:100222680-100222996	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr15:100222747-100223762	HUVEC	blood vessel:	n/a	n/a
28	FOS	chr15:100222679-100222986	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr15:100222676-100222989	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr15:100222681-100222982	MCF10A-Er-Src	breast:	n/a	n/a
31	FOXM1	chr15:100217877-100218305	GM12878	blood:	n/a	n/a
32	GATA2	chr15:100223156-100223908	HUVEC	blood vessel:	n/a	chr15:100223444-100223454 chr15:100223375-100223385
33	GATA3	chr15:100220654-100220870	SH-SY5Y	brain:	n/a	n/a
34	IRF3	chr15:100234875-100234890	GM12878	blood:	n/a	n/a
35	IRF3	chr15:100237382-100237470	GM12878	blood:	n/a	n/a
36	JUN	chr15:100218073-100218231	HepG2	liver:	n/a	chr15:100218134-100218147
37	JUN	chr15:100222686-100223732	HUVEC	blood vessel:	n/a	n/a
38	JUND	chr15:100220675-100220717	H1-hESC	embryonic stem cell:	n/a	n/a
39	JUND	chr15:100229105-100229305	K562	blood:	n/a	n/a
40	JUND	chr15:100222132-100222462	HepG2	liver:	n/a	chr15:100222290-100222302 chr15:100222308-100222317
41	JUND	chr15:100218017-100218271	HepG2	liver:	n/a	n/a
42	JUND	chr15:100222611-100222985	K562	blood:	n/a	n/a
43	KAP1	chr15:100226617-100226817	K562	blood:	n/a	n/a
44	MAFF	chr15:100225621-100225679	HepG2	liver:	n/a	n/a
45	MAFK	chr15:100225545-100225808	HepG2	liver:	n/a	n/a
46	MAFK	chr15:100225590-100225786	HepG2	liver:	n/a	n/a
47	MAX	chr15:100228995-100229246	K562	blood:	n/a	chr15:100229184-100229195 chr15:100229184-100229194 chr15:100229183-100229196 chr15:100229186-100229195 chr15:100229185-100229195 chr15:100229185-100229195
48	MAZ	chr15:100218053-100218125	GM12878	blood:	n/a	n/a
49	MEF2A	chr15:100217874-100218408	GM12878	blood:	n/a	n/a
50	MEF2A	chr15:100217756-100218260	GM12878	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:100234684..100235186-chr17:56708607..56709673,9	HCT-116	colon:
2	chr15:100234684..100235204-chr17:56708616..56709476,8	MCF-7	breast:
3	chr15:100233684..100235204-chr17:56706616..56709514,4	MCF-7	breast:
4	chr15:100234684..100235204-chr17:56708626..56709370,3	MCF-7	breast:
5	chr15:100104749..100107658-chr15:100227633..100229523,2	MCF-7	breast:
6	chr15:100101934..100104741-chr15:100233030..100234817,2	MCF-7	breast:
7	chr15:100104936..100107605-chr15:100221549..100224496,2	MCF-7	breast:
8	chr15:100231169..100233211-chr15:100238091..100241014,2	K562	blood:
9	chr15:100220233..100222565-chr15:100222577..100224923,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000201724	TF binding region
ENSG00000212195	chromatin interactions
ENSG00000201724	chromatin interactions
ENSG00000068305	chromatin interactions

Extended variants
information (count: 898 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:898 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2570930	chr15:100214935-100214936	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551595264	chr15:100214937-100214938	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2033547	chr15:100214958-100214959	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs527594194	chr15:100215007-100215008	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs182332590	chr15:100215036-100215037	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs4965531	chr15:100215060-100215061	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559335078	chr15:100215062-100215063	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs368259562	chr15:100215063-100215064	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs563468806	chr15:100215076-100215077	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs537819264	chr15:100215101-100215102	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs149963043	chr15:100215167-100215168	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570994317	chr15:100215174-100215175	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538886260	chr15:100215179-100215180	Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs553939540	chr15:100215233-100215234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186899324	chr15:100215346-100215347	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536552459	chr15:100215354-100215355	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191843365	chr15:100215491-100215492	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs116694180	chr15:100215507-100215508	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543824990	chr15:100215533-100215534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565422399	chr15:100215571-100215572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577415264	chr15:100215575-100215576	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3730279	chr15:100215591-100215592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530865200	chr15:100215596-100215597	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199820037	chr15:100215616-100215617	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376779827	chr15:100215632-100215633	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377207410	chr15:100215645-100215646	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560098597	chr15:100215678-100215679	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527448232	chr15:100215701-100215702	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145040892	chr15:100215715-100215716	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183194343	chr15:100215724-100215725	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185513650	chr15:100215729-100215730	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148666595	chr15:100215790-100215791	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142191933	chr15:100215807-100215808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538347098	chr15:100215839-100215840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547426696	chr15:100215848-100215849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566155705	chr15:100215863-100215864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28530556	chr15:100215885-100215886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189925943	chr15:100215916-100215917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531289269	chr15:100215932-100215933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570323284	chr15:100215940-100215941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537493170	chr15:100215949-100215950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558994836	chr15:100215965-100215966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147818754	chr15:100215968-100215969	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117983730	chr15:100215969-100215970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553404911	chr15:100216035-100216036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141684036	chr15:100216039-100216040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2436842	chr15:100216061-100216062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561068590	chr15:100216085-100216086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534083717	chr15:100216100-100216101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552457488	chr15:100216106-100216107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
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 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
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:877 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:100159000-100253000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:100160800-100215200	Weak transcription	Ovary	ovary
3	chr15:100171200-100232800	Weak transcription	Esophagus	oesophagus
4	chr15:100171200-100248800	Weak transcription	Gastric	stomach
5	chr15:100172000-100230800	Weak transcription	Stomach Mucosa	stomach
6	chr15:100176800-100215200	Weak transcription	Brain Germinal Matrix	brain
7	chr15:100179200-100232600	Weak transcription	Colonic Mucosa	Colon
8	chr15:100181600-100215200	Weak transcription	Spleen	Spleen
9	chr15:100181600-100215600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr15:100181800-100232800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:100188400-100215000	Weak transcription	A549	lung
12	chr15:100189000-100215400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:100190600-100222600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:100192000-100215000	Weak transcription	NHEK	skin
15	chr15:100192000-100215400	Weak transcription	HSMMtube	muscle
16	chr15:100192000-100230400	Weak transcription	NHLF	lung
17	chr15:100192800-100215600	Weak transcription	Fetal Intestine Small	intestine
18	chr15:100193000-100229000	Weak transcription	Lung	lung
19	chr15:100199800-100232600	Weak transcription	Right Ventricle	heart
20	chr15:100200800-100221600	Weak transcription	Psoas Muscle	Psoas
21	chr15:100203200-100215000	Weak transcription	Fetal Brain Female	brain
22	chr15:100203200-100215200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:100203200-100215600	Weak transcription	Fetal Stomach	stomach
24	chr15:100208400-100219200	Weak transcription	Small Intestine	intestine
25	chr15:100209600-100215000	Weak transcription	Colon Smooth Muscle	Colon
26	chr15:100209800-100215600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:100209800-100216000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:100209800-100217800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr15:100209800-100224400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr15:100209800-100232800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr15:100210200-100215400	Weak transcription	HepG2	liver
32	chr15:100210800-100220600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:100210800-100223400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:100211000-100215800	Strong transcription	Primary B cells from cord blood	blood
35	chr15:100211000-100217600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr15:100211000-100219800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr15:100211000-100219800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:100211400-100216600	Strong transcription	NH-A	brain
39	chr15:100211400-100217400	Strong transcription	GM12878-XiMat	blood
40	chr15:100211600-100216800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:100211600-100217800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:100211600-100219600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr15:100211600-100220400	Strong transcription	Fetal Thymus	thymus
44	chr15:100211800-100216400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr15:100211800-100219600	Strong transcription	Primary T cells from cord blood	blood
46	chr15:100211800-100219800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr15:100211800-100232200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:100212000-100216000	Strong transcription	HSMM	muscle
49	chr15:100212000-100221800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:100212200-100216800	Strong transcription	Primary hematopoietic stem cells	blood

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