Variant report

Variant	nsv933905
Chromosome Location	chr15:73007471-73009230
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPZ	chr15:73008647-73008659	HepG2	liver:	n/a	n/a
2	JUN	chr15:73008960-73009149	K562	blood:	n/a	n/a
3	MAFF	chr15:73007363-73007555	K562	blood:	n/a	n/a
4	MAFF	chr15:73007346-73007544	HepG2	liver:	n/a	n/a
5	MAFK	chr15:73007294-73007500	HepG2	liver:	n/a	chr15:73007446-73007457 chr15:73007444-73007458 chr15:73007441-73007457 chr15:73007446-73007457 chr15:73007445-73007456 chr15:73007441-73007456 chr15:73007445-73007456
6	MAFK	chr15:73007331-73007575	HepG2	liver:	n/a	chr15:73007446-73007457 chr15:73007444-73007458 chr15:73007441-73007457 chr15:73007446-73007457 chr15:73007445-73007456 chr15:73007441-73007456 chr15:73007445-73007456

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73002571..73004510-chr15:73005846..73007759,2	MCF-7	breast:
2	chr15:73006465..73009251-chr15:73067136..73069749,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOLGA6B-2	chr15:73009169-73009191	NONHSAT047120

Variant related genes	Relation type
BBS4	TF binding region
ENSG00000159322	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577898691	chr15:73007528-73007529	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs534696861	chr15:73007558-73007559	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs535079152	chr15:73007568-73007569	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs113931214	chr15:73007570-73007571	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs74024328	chr15:73007595-73007596	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373839592	chr15:73007621-73007622	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527539622	chr15:73007637-73007638	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs145168232	chr15:73007643-73007644	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200396355	chr15:73007644-73007645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370868102	chr15:73007693-73007694	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376206327	chr15:73007710-73007711	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs139038321	chr15:73007728-73007729	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199809442	chr15:73007736-73007737	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs149344505	chr15:73007738-73007739	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs144696430	chr15:73007740-73007741	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375951421	chr15:73007761-73007762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs367560646	chr15:73007766-73007767	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs558055315	chr15:73007769-73007770	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372145606	chr15:73007779-73007780	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191098252	chr15:73007807-73007808	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs574754394	chr15:73007810-73007811	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181840015	chr15:73007825-73007826	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547537722	chr15:73007833-73007834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs566043089	chr15:73007839-73007840	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536514632	chr15:73007859-73007860	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555246345	chr15:73007862-73007863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200074128	chr15:73007884-73007885	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs730180	chr15:73007893-73007894	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs77267223	chr15:73007921-73007922	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147563580	chr15:73007926-73007927	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555978244	chr15:73007992-73007993	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577960894	chr15:73008002-73008003	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs186379172	chr15:73008073-73008074	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560351890	chr15:73008075-73008076	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs79426620	chr15:73008078-73008079	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542533635	chr15:73008115-73008116	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561367056	chr15:73008121-73008122	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2012253	chr15:73008123-73008124	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs550296123	chr15:73008124-73008125	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs565040828	chr15:73008129-73008130	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532429228	chr15:73008181-73008182	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs141959269	chr15:73008221-73008222	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143416304	chr15:73008232-73008233	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369605467	chr15:73008234-73008235	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148371959	chr15:73008288-73008289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs190923924	chr15:73008366-73008367	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548587329	chr15:73008381-73008382	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140277052	chr15:73008415-73008416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370200686	chr15:73008416-73008417	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376003780	chr15:73008447-73008448	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72979200-73023600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:72979200-73023600	Weak transcription	Lung	lung
3	chr15:72979400-73027200	Weak transcription	Aorta	Aorta
4	chr15:72979600-73023200	Weak transcription	Fetal Kidney	kidney
5	chr15:72979600-73026800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:72979800-73027400	Weak transcription	Hela-S3	cervix
7	chr15:72980200-73008000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr15:72981000-73018600	Weak transcription	Pancreas	Pancrea
9	chr15:72985200-73021000	Weak transcription	Fetal Intestine Small	intestine
10	chr15:72993000-73028800	Weak transcription	NHEK	skin
11	chr15:72999000-73009600	Weak transcription	HSMMtube	muscle
12	chr15:72999000-73020400	Weak transcription	NH-A	brain
13	chr15:72999000-73021800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr15:72999000-73044000	Weak transcription	Small Intestine	intestine
15	chr15:72999600-73027600	Weak transcription	NHLF	lung
16	chr15:72999800-73007600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:73000800-73007600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:73001200-73027600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:73001400-73020400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:73001400-73027400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr15:73001400-73027400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:73001400-73027600	Weak transcription	Right Ventricle	heart
23	chr15:73001600-73007600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:73001600-73008600	Weak transcription	Placenta	Placenta
25	chr15:73001600-73018600	Weak transcription	HepG2	liver
26	chr15:73001800-73027200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:73001800-73027400	Weak transcription	K562	blood
28	chr15:73001800-73033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr15:73002000-73007600	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
31	chr15:73002200-73007600	Weak transcription	Thymus	Thymus
32	chr15:73002200-73023000	Weak transcription	Fetal Thymus	thymus
33	chr15:73002200-73026000	Weak transcription	Fetal Heart	heart
34	chr15:73002200-73028800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr15:73002400-73010600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:73002400-73022800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr15:73002400-73028800	Weak transcription	Psoas Muscle	Psoas
38	chr15:73003000-73018600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:73003000-73027400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr15:73003000-73028800	Weak transcription	Dnd41	blood
41	chr15:73003000-73031400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr15:73003200-73009400	Weak transcription	Brain Angular Gyrus	brain
43	chr15:73003200-73027800	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr15:73003200-73029000	Weak transcription	Esophagus	oesophagus
45	chr15:73003400-73023000	Weak transcription	Colonic Mucosa	Colon
46	chr15:73003400-73029000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr15:73003400-73044000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr15:73003600-73010400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:73003800-73011600	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr15:73003800-73012000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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