Variant report

Variant	nsv568922
Chromosome Location	chr15:34175972-34194586
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	BATF	chr15:34190306-34190556	GM12878	blood:	n/a	chr15:34190407-34190418
2	BRCA1	chr15:34182390-34182405	GM12878	blood:	n/a	n/a
3	CEBPB	chr15:34189102-34189385	A549	lung:	n/a	chr15:34189237-34189248
4	CEBPB	chr15:34190559-34190920	Hela-S3	cervix:	n/a	chr15:34190724-34190735
5	CEBPB	chr15:34189121-34189394	HepG2	liver:	n/a	chr15:34189237-34189248
6	CEBPB	chr15:34190548-34190906	IMR90	lung:	n/a	chr15:34190724-34190735
7	CEBPB	chr15:34190560-34190888	HepG2	liver:	n/a	chr15:34190724-34190735
8	CEBPB	chr15:34190572-34190855	H1-hESC	embryonic stem cell:	n/a	chr15:34190724-34190735
9	CHD1	chr15:34177066-34177082	GM12878	blood:	n/a	n/a
10	CTCF	chr15:34182100-34182250	GM12870	blood:	n/a	chr15:34182208-34182226
11	CTCF	chr15:34187260-34187410	HepG2	liver:	n/a	chr15:34187267-34187275
12	CTCF	chr15:34187292-34187338	MCF-7	breast:	n/a	n/a
13	CTCF	chr15:34187240-34187378	MCF-7	breast:	n/a	chr15:34187267-34187275
14	CTCF	chr15:34187160-34187310	HMF	breast:	n/a	chr15:34187267-34187275
15	CTCF	chr15:34182200-34182350	Caco-2	colon:	n/a	chr15:34182208-34182226
16	CTCF	chr15:34184857-34184989	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr15:34187260-34187410	GM12864	blood:	n/a	chr15:34187267-34187275
18	CTCF	chr15:34182240-34182390	NB4	blood:	n/a	n/a
19	CTCF	chr15:34187200-34187350	A549	lung:	n/a	chr15:34187267-34187275
20	CTCF	chr15:34182177-34182278	MCF-7	breast:	n/a	chr15:34182208-34182226
21	CTCF	chr15:34182156-34182274	MCF-7	breast:	n/a	chr15:34182208-34182226
22	CTCF	chr15:34187260-34187369	Hela-S3	cervix:	n/a	chr15:34187267-34187275
23	CTCF	chr15:34187240-34187390	MCF-7	breast:	n/a	chr15:34187267-34187275
24	CTCF	chr15:34182195-34182252	MCF-7	breast:	n/a	chr15:34182208-34182226
25	CTCF	chr15:34187280-34187430	BE2_C	brain:	n/a	n/a
26	CTCF	chr15:34187240-34187390	BE2_C	brain:	n/a	chr15:34187267-34187275
27	CTCF	chr15:34182195-34182296	H1-hESC	embryonic stem cell:	n/a	chr15:34182208-34182226
28	EBF1	chr15:34190834-34191135	GM12878	blood:	n/a	chr15:34191042-34191053 chr15:34191041-34191054
29	EBF1	chr15:34190901-34191109	GM12878	blood:	n/a	chr15:34191042-34191053 chr15:34191041-34191054
30	EBF1	chr15:34190902-34191200	GM12878	blood:	n/a	chr15:34191042-34191053 chr15:34191041-34191054
31	FOS	chr15:34190321-34190470	MCF10A-Er-Src	breast:	n/a	chr15:34190411-34190418 chr15:34190414-34190424 chr15:34190414-34190424 chr15:34190410-34190420 chr15:34190411-34190419 chr15:34190409-34190421 chr15:34190410-34190420 chr15:34190410-34190420 chr15:34190411-34190419
32	FOS	chr15:34190273-34190854	MCF10A-Er-Src	breast:	n/a	chr15:34190411-34190418 chr15:34190414-34190424 chr15:34190414-34190424 chr15:34190410-34190420 chr15:34190411-34190419 chr15:34190409-34190421 chr15:34190410-34190420 chr15:34190410-34190420 chr15:34190411-34190419
33	FOS	chr15:34190320-34190581	MCF10A-Er-Src	breast:	n/a	chr15:34190411-34190418 chr15:34190414-34190424 chr15:34190414-34190424 chr15:34190410-34190420 chr15:34190411-34190419 chr15:34190409-34190421 chr15:34190410-34190420 chr15:34190410-34190420 chr15:34190411-34190419
34	FOS	chr15:34189090-34189431	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr15:34189066-34189423	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr15:34190286-34190605	MCF10A-Er-Src	breast:	n/a	chr15:34190411-34190418 chr15:34190414-34190424 chr15:34190414-34190424 chr15:34190410-34190420 chr15:34190411-34190419 chr15:34190409-34190421 chr15:34190410-34190420 chr15:34190410-34190420 chr15:34190411-34190419
37	FOS	chr15:34189051-34189419	MCF10A-Er-Src	breast:	n/a	n/a
38	FOXA1	chr15:34182347-34182573	T-47D	breast:	n/a	n/a
39	GATA3	chr15:34179244-34179444	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr15:34179111-34179663	SK-N-SH	brain:	n/a	n/a
41	GATA3	chr15:34179031-34179688	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr15:34190336-34190814	SK-N-SH	brain:	n/a	chr15:34190412-34190421 chr15:34190409-34190418
43	GATA3	chr15:34190282-34190927	SK-N-SH	brain:	n/a	chr15:34190412-34190421 chr15:34190409-34190418
44	IRF1	chr15:34186560-34186713	K562	blood:	n/a	chr15:34186612-34186632 chr15:34186612-34186626 chr15:34186618-34186631 chr15:34186613-34186630 chr15:34186621-34186632 chr15:34186618-34186632 chr15:34186614-34186628 chr15:34186616-34186630 chr15:34186613-34186627 chr15:34186618-34186631 chr15:34186618-34186631 chr15:34186620-34186630 chr15:34186617-34186631 chr15:34186620-34186631 chr15:34186618-34186631
45	JUND	chr15:34194279-34194619	HepG2	liver:	n/a	n/a
46	JUND	chr15:34190387-34190583	K562	blood:	n/a	chr15:34190411-34190418 chr15:34190414-34190424 chr15:34190414-34190424 chr15:34190410-34190420 chr15:34190411-34190419 chr15:34190409-34190421 chr15:34190410-34190420 chr15:34190410-34190420 chr15:34190411-34190419
47	KAP1	chr15:34190451-34190987	U2OS	brain:	n/a	n/a
48	KAP1	chr15:34190448-34190941	HEK293	kidney:	n/a	n/a
49	MAX	chr15:34190714-34190774	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr15:34189246-34189435	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:34173988..34176923-chr15:34179211..34180812,2	K562	blood:
2	chr15:34173988..34176923-chr15:34179211..34180812,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHRM5-1	chr15:34188604-34188683	l_1128_chr15:34188603-34237538_heart

Variant related genes	Relation type
AVEN	TF binding region

Extended variants
information (count: 937 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:937 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7176081	chr15:34175972-34175973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373665808	chr15:34176018-34176019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs34542773	chr15:34176030-34176031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143192788	chr15:34176086-34176087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551733147	chr15:34176104-34176105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs16958202	chr15:34176116-34176117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs578192277	chr15:34176162-34176163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115954219	chr15:34176170-34176171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148281737	chr15:34176197-34176198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184342637	chr15:34176246-34176247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs78325218	chr15:34176278-34176279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79350680	chr15:34176279-34176280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79744398	chr15:34176281-34176282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71415534	chr15:34176310-34176311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1001597	chr15:34176321-34176322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188095310	chr15:34176408-34176409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566152228	chr15:34176428-34176429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539871131	chr15:34176451-34176452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs115726762	chr15:34176476-34176477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375620285	chr15:34176480-34176481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555716121	chr15:34176482-34176483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35395479	chr15:34176513-34176514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576463419	chr15:34176572-34176573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369798920	chr15:34176580-34176581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140378216	chr15:34176595-34176596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1477436	chr15:34176670-34176671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs540933459	chr15:34176715-34176716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs180905564	chr15:34176731-34176732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554301173	chr15:34176734-34176735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184766292	chr15:34176778-34176779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1477437	chr15:34176787-34176788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189540367	chr15:34176802-34176803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16958211	chr15:34176819-34176820	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs145816532	chr15:34176849-34176850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376724262	chr15:34176855-34176856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35809059	chr15:34176880-34176881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10519889	chr15:34176888-34176889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573715486	chr15:34176902-34176903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200970207	chr15:34176949-34176950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181646463	chr15:34176973-34176974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549854461	chr15:34176980-34176981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568337246	chr15:34177018-34177019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79450693	chr15:34177038-34177039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2017325	chr15:34177079-34177080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs565852423	chr15:34177097-34177098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138306565	chr15:34177099-34177100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533210001	chr15:34177132-34177133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115092000	chr15:34177183-34177184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374938244	chr15:34177216-34177217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570108494	chr15:34177248-34177249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34160000-34199400	Weak transcription	Left Ventricle	heart
2	chr15:34164400-34186400	Weak transcription	Right Atrium	heart
3	chr15:34168200-34176000	Weak transcription	Primary T cells from cord blood	blood
4	chr15:34177200-34177400	Enhancers	Aorta	Aorta
5	chr15:34179000-34179400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:34179000-34180000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:34180400-34180800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr15:34180400-34180800	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr15:34185400-34186000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:34185400-34186400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr15:34185400-34186400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:34185400-34186800	Enhancers	Primary hematopoietic stem cells	blood
13	chr15:34185600-34185800	Enhancers	Brain Cingulate Gyrus	brain
14	chr15:34185600-34186000	Enhancers	Brain Substantia Nigra	brain
15	chr15:34185600-34186600	Enhancers	Brain Anterior Caudate	brain
16	chr15:34185600-34187000	Enhancers	GM12878-XiMat	blood
17	chr15:34185800-34186600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr15:34186000-34186800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:34186400-34186800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:34186600-34189800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr15:34186800-34187000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:34186800-34187000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:34186800-34190400	Weak transcription	Osteobl	bone
24	chr15:34187000-34190400	Weak transcription	GM12878-XiMat	blood
25	chr15:34189000-34189200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:34189200-34189800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:34189800-34191400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:34189800-34193200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr15:34190400-34190800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr15:34190400-34190800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:34190400-34190800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:34190400-34190800	Enhancers	A549	lung
33	chr15:34190400-34190800	Flanking Active TSS	GM12878-XiMat	blood
34	chr15:34190400-34190800	Enhancers	HSMM	muscle
35	chr15:34190400-34191000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr15:34190400-34191000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:34190400-34191000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:34190400-34191000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr15:34190400-34191000	Enhancers	NHDF-Ad	bronchial
40	chr15:34190400-34191000	Enhancers	NHEK	skin
41	chr15:34190400-34191000	Enhancers	NHLF	lung
42	chr15:34190400-34191200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:34190400-34191200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:34190400-34191200	Enhancers	Osteobl	bone
45	chr15:34190600-34190800	Enhancers	Pancreas	Pancrea
46	chr15:34190600-34191000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr15:34190600-34191000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr15:34190600-34191200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr15:34190800-34191400	Enhancers	GM12878-XiMat	blood
50	chr15:34191000-34202800	Weak transcription	NHLF	lung

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