Variant report

Variant	nsv94389
Chromosome Location	chr15:72980773-72984645
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:72984365-72984565	HepG2	liver:	n/a	chr15:72984474-72984485
2	CEBPB	chr15:72984361-72984585	A549	lung:	n/a	chr15:72984474-72984485
3	CEBPB	chr15:72984343-72984605	K562	blood:	n/a	chr15:72984474-72984485
4	CTCF	chr15:72981980-72982130	AG04450	lung:	n/a	n/a
5	CTCF	chr15:72981900-72982050	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr15:72981860-72982010	HAc	cerebellar:	n/a	n/a
7	CTCF	chr15:72981960-72982110	AG10803	skin:	n/a	n/a
8	CTCF	chr15:72981800-72982070	GM12872	blood:	n/a	n/a
9	CTCF	chr15:72981900-72982050	AG09319	gingival:	n/a	n/a
10	CTCF	chr15:72981880-72982030	GM12866	blood:	n/a	n/a
11	CTCF	chr15:72981940-72982090	HPF	lung:	n/a	n/a
12	CTCF	chr15:72981960-72982110	AG04449	skin:	n/a	n/a
13	CTCF	chr15:72981980-72982130	GM12869	blood:	n/a	n/a
14	CTCF	chr15:72981880-72982030	WI-38	lung:	n/a	n/a
15	CTCF	chr15:72981880-72982030	SAEC	small airway:	n/a	n/a
16	CTCF	chr15:72981940-72982090	HPAF	blood vessel:	n/a	n/a
17	CTCF	chr15:72981840-72981990	MCF-7	breast:	n/a	n/a
18	CTCF	chr15:72981920-72982070	HVMF	connective:	n/a	n/a
19	CTCF	chr15:72981880-72982030	GM12864	blood:	n/a	n/a
20	CTCF	chr15:72981700-72981850	HVMF	connective:	n/a	n/a
21	CTCF	chr15:72981900-72982050	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr15:72981940-72982090	AG09309	skin:	n/a	n/a
23	CTCF	chr15:72981940-72982090	HCT-116	colon:	n/a	n/a
24	CTCF	chr15:72981900-72982050	GM12872	blood:	n/a	n/a
25	CTCF	chr15:72981880-72982110	NHEK	skin:	n/a	n/a
26	CTCF	chr15:72981920-72982070	HCT-116	colon:	n/a	n/a
27	CTCF	chr15:72981920-72982070	GM12870	blood:	n/a	n/a
28	CTCF	chr15:72981960-72982110	K562	blood:	n/a	n/a
29	CTCF	chr15:72981960-72982110	GM12864	blood:	n/a	n/a
30	CTCF	chr15:72981860-72982010	BJ	skin:	n/a	n/a
31	CTCF	chr15:72981980-72982130	BE2_C	brain:	n/a	n/a
32	CTCF	chr15:72981960-72982110	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr15:72981900-72982050	GM12873	blood:	n/a	n/a
34	CTCF	chr15:72981960-72982110	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr15:72981940-72982090	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr15:72981900-72982050	K562	blood:	n/a	n/a
37	CTCF	chr15:72981900-72982050	GM12875	blood:	n/a	n/a
38	CTCF	chr15:72981960-72982110	HPAF	blood vessel:	n/a	n/a
39	CTCF	chr15:72981880-72982030	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr15:72981940-72982090	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr15:72981880-72982030	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr15:72981920-72982070	GM12866	blood:	n/a	n/a
43	CTCF	chr15:72981940-72982090	HCFaa	heart:	n/a	n/a
44	CTCF	chr15:72982000-72982150	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr15:72981940-72982090	AG04449	skin:	n/a	n/a
46	CTCF	chr15:72981954-72982053	MCF-7	breast:	n/a	n/a
47	CTCF	chr15:72981960-72982110	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr15:72981840-72981990	BJ	skin:	n/a	n/a
49	CTCF	chr15:72981960-72982110	HMF	breast:	n/a	n/a
50	CTCF	chr15:72981960-72982110	HMEC	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72979618..72981148-chr15:72991969..72994170,2	MCF-7	breast:
2	chr15:72980424..72982854-chr15:72989051..72991361,2	MCF-7	breast:
3	chr15:72976807..72979134-chr15:72983735..72985285,2	K562	blood:
4	chr15:72973101..72975344-chr15:72976692..72980792,4	MCF-7	breast:
5	chr15:72978938..72981317-chr15:73074560..73077463,3	K562	blood:
6	chr15:72978495..72980442-chr15:72983372..72985333,2	MCF-7	breast:
7	chr15:72978441..72980065-chr15:72980093..72981792,3	K562	blood:
8	chr15:72971779..72975423-chr15:72976170..72980827,7	K562	blood:
9	chr15:72981181..72983990-chr15:73000145..73002107,2	K562	blood:
10	chr15:72978938..72981317-chr15:73074560..73077463,2	K562	blood:
11	chr15:72977348..72979954-chr15:72981052..72985507,6	MCF-7	breast:
12	chr15:72982189..72984616-chr15:73052053..73053998,2	K562	blood:

No data

Variant related genes	Relation type
HIGD2B	TF binding region
ENSG00000140463	chromatin interactions
ENSG00000260898	chromatin interactions
ENSG00000159322	chromatin interactions
ENSG00000261281	chromatin interactions
ENSG00000175202	chromatin interactions

Extended variants
information (count: 144 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570604823	chr15:72980793-72980794	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs139834553	chr15:72980815-72980816	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs143149316	chr15:72980816-72980817	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs376890295	chr15:72980844-72980845	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs146887599	chr15:72980847-72980848	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs535786470	chr15:72980896-72980897	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs557601324	chr15:72980903-72980904	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs139772839	chr15:72980992-72980993	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs543388254	chr15:72980995-72980996	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs565012520	chr15:72981059-72981060	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs142958422	chr15:72981125-72981126	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs541080005	chr15:72981159-72981160	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs559596775	chr15:72981219-72981220	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs554623355	chr15:72981223-72981224	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs538101109	chr15:72981364-72981365	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs144019694	chr15:72981369-72981370	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs539217064	chr15:72981370-72981371	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs541787194	chr15:72981372-72981373	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs151092951	chr15:72981381-72981382	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs141017735	chr15:72981392-72981393	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs572863477	chr15:72981436-72981437	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs556312388	chr15:72981453-72981454	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs552151451	chr15:72981495-72981496	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs571117919	chr15:72981500-72981501	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs374626827	chr15:72981506-72981507	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs150231071	chr15:72981535-72981536	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs35731345	chr15:72981538-72981539	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78919856	chr15:72981601-72981602	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs568579135	chr15:72981604-72981605	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs7497429	chr15:72981631-72981632	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs557400984	chr15:72981646-72981647	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs569523150	chr15:72981669-72981670	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12903320	chr15:72981682-72981683	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs367976964	chr15:72981703-72981704	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs558590119	chr15:72981791-72981792	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs576867078	chr15:72981857-72981858	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs371744647	chr15:72981889-72981890	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs577081151	chr15:72981895-72981896	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs376449093	chr15:72981910-72981911	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs55865414	chr15:72981960-72981961	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs553081511	chr15:72982019-72982020	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs574580008	chr15:72982036-72982037	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs541996892	chr15:72982044-72982045	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs372862471	chr15:72982059-72982060	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs200550646	chr15:72982061-72982062	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs375490247	chr15:72982062-72982063	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs56090490	chr15:72982072-72982073	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs201419383	chr15:72982075-72982076	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs563480586	chr15:72982099-72982100	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs533102789	chr15:72982119-72982120	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72979200-72984200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:72979200-73023600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:72979200-73023600	Weak transcription	Lung	lung
4	chr15:72979400-72983400	Weak transcription	GM12878-XiMat	blood
5	chr15:72979400-72984800	Weak transcription	Fetal Lung	lung
6	chr15:72979400-72986200	Weak transcription	Fetal Heart	heart
7	chr15:72979400-73002000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr15:72979400-73002000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr15:72979400-73004400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr15:72979400-73006000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr15:72979400-73027200	Weak transcription	Aorta	Aorta
12	chr15:72979600-72986800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:72979600-72988000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr15:72979600-72998800	Weak transcription	NH-A	brain
15	chr15:72979600-73002200	Weak transcription	Ovary	ovary
16	chr15:72979600-73004000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr15:72979600-73004200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr15:72979600-73004600	Weak transcription	Primary B cells from cord blood	blood
19	chr15:72979600-73004600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr15:72979600-73023200	Weak transcription	Fetal Kidney	kidney
21	chr15:72979600-73026800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr15:72979800-72984200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:72979800-72984800	Weak transcription	Fetal Intestine Small	intestine
24	chr15:72979800-72989600	Weak transcription	Fetal Brain Female	brain
25	chr15:72979800-72998600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:72979800-73002000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:72979800-73004000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:72979800-73004400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:72979800-73007200	Weak transcription	Left Ventricle	heart
30	chr15:72979800-73027400	Weak transcription	Hela-S3	cervix
31	chr15:72980000-73002200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:72980000-73002200	Weak transcription	Fetal Stomach	stomach
33	chr15:72980000-73004000	Weak transcription	Fetal Muscle Leg	muscle
34	chr15:72980200-72988800	Weak transcription	A549	lung
35	chr15:72980200-72996200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:72980200-72998600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:72980200-73004200	Weak transcription	Liver	Liver
38	chr15:72980200-73008000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr15:72980400-72980800	Weak transcription	Pancreas	Pancrea
40	chr15:72980800-72981000	Enhancers	Pancreas	Pancrea
41	chr15:72981000-73018600	Weak transcription	Pancreas	Pancrea
42	chr15:72983400-72983800	Enhancers	GM12878-XiMat	blood
43	chr15:72984200-72985000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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