Variant report

Variant	nsv977698
Chromosome Location	chr15:35142156-35142943
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	BHLHE40	chr15:35142442-35142677	K562	blood:	n/a	n/a
2	CTCF	chr15:35142419-35142475	ProgFib	skin:	n/a	n/a
3	EP300	chr15:35142325-35142688	SK-N-SH_RA	brain:	n/a	n/a
4	GATA2	chr15:35142248-35142783	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr15:35142147-35142938	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr15:35142224-35142899	SK-N-SH	brain:	n/a	n/a
7	GATA3	chr15:35142386-35142771	SH-SY5Y	brain:	n/a	n/a
8	MAX	chr15:35142459-35142658	K562	blood:	n/a	n/a
9	MAX	chr15:35142384-35142664	K562	blood:	n/a	n/a
10	MXI1	chr15:35142156-35142857	SK-N-SH	brain:	n/a	n/a
11	NFIC	chr15:35142193-35142717	SK-N-SH	brain:	n/a	chr15:35142483-35142500 chr15:35142483-35142499
12	NFIC	chr15:35142215-35142785	SK-N-SH	brain:	n/a	chr15:35142483-35142500 chr15:35142483-35142499
13	NRF1	chr15:35142611-35142661	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr15:35142176-35142557	HepG2	liver:	n/a	n/a
15	POLR2A	chr15:35142423-35142628	K562	blood:	n/a	n/a
16	POLR2A	chr15:35142247-35142322	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:35142329-35142350	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:35142457-35142459	K562	blood:	n/a	n/a
19	POLR2A	chr15:35142410-35142443	K562	blood:	n/a	n/a
20	POLR2A	chr15:35141567-35146083	K562	blood:	n/a	n/a
21	POLR2A	chr15:35142536-35142615	A549	lung:	n/a	n/a
22	POLR2A	chr15:35142246-35142767	MCF-7	breast:	n/a	n/a
23	POLR2A	chr15:35141453-35142661	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr15:35142057-35142684	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr15:35142005-35142575	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:35142506-35142587	ProgFib	skin:	n/a	n/a
27	POLR2A	chr15:35142421-35142603	K562	blood:	n/a	n/a
28	POLR2A	chr15:35142294-35142693	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:35130591..35132648-chr15:35139707..35142491,2	K562	blood:
2	chr15:35139930..35141497-chr15:35142763..35145375,2	K562	blood:

Variant related genes	Relation type
ENSG00000259751	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74009738	chr15:35142201-35142202	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562006739	chr15:35142240-35142241	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117612485	chr15:35142269-35142270	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111967626	chr15:35142283-35142284	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547666959	chr15:35142331-35142332	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112628261	chr15:35142365-35142366	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542231845	chr15:35142374-35142375	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs118053508	chr15:35142379-35142380	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76110001	chr15:35142500-35142501	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537691393	chr15:35142525-35142526	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558559399	chr15:35142550-35142551	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12591523	chr15:35142566-35142567	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs113673694	chr15:35142615-35142616	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs144065761	chr15:35142651-35142652	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs375716312	chr15:35142669-35142670	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs535005998	chr15:35142688-35142689	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs553215063	chr15:35142697-35142698	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs187520899	chr15:35142759-35142760	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs545049398	chr15:35142776-35142777	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs190477800	chr15:35142792-35142793	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs183001212	chr15:35142800-35142801	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs570870367	chr15:35142809-35142810	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs534741399	chr15:35142885-35142886	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs575643281	chr15:35142914-35142915	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs553248282	chr15:35142934-35142935	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:35128800-35142400	Weak transcription	Pancreas	Pancrea
2	chr15:35129200-35147600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr15:35130000-35145600	Weak transcription	A549	lung
4	chr15:35130200-35147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:35130400-35147600	Weak transcription	NHLF	lung
6	chr15:35134000-35145200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr15:35134000-35145600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:35134000-35147400	Weak transcription	NHDF-Ad	bronchial
9	chr15:35134600-35147600	Weak transcription	HSMM	muscle
10	chr15:35134800-35147400	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:35139600-35148000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:35139800-35143800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:35140000-35145000	Weak transcription	Primary T cells from cord blood	blood
14	chr15:35140200-35144800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:35140200-35145000	Weak transcription	Hela-S3	cervix
16	chr15:35140200-35146800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:35140400-35146800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr15:35140400-35221600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr15:35140600-35148000	Weak transcription	NHEK	skin
20	chr15:35140800-35145000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:35140800-35146600	Weak transcription	Fetal Intestine Large	intestine
22	chr15:35140800-35147200	Weak transcription	Thymus	Thymus
23	chr15:35140800-35147400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:35141000-35146800	Weak transcription	NH-A	brain
25	chr15:35141000-35147200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr15:35141000-35148000	Weak transcription	Fetal Brain Female	brain
27	chr15:35141400-35142600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:35141400-35142600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr15:35141400-35147200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr15:35141600-35154800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:35141800-35142200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:35141800-35142400	Weak transcription	Fetal Muscle Trunk	muscle
33	chr15:35141800-35142400	Weak transcription	Lung	lung
34	chr15:35141800-35143000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr15:35141800-35145000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:35141800-35145000	Weak transcription	Fetal Kidney	kidney
37	chr15:35141800-35146600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:35141800-35153400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:35142000-35142600	Enhancers	Right Atrium	heart
40	chr15:35142000-35146600	Weak transcription	Primary B cells from cord blood	blood
41	chr15:35142000-35147600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr15:35142200-35142600	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr15:35142200-35142600	Enhancers	K562	blood
44	chr15:35142200-35142800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr15:35142400-35142600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr15:35142400-35142600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr15:35142400-35142600	Enhancers	Fetal Muscle Trunk	muscle
48	chr15:35142400-35142600	Enhancers	Left Ventricle	heart
49	chr15:35142400-35142600	Enhancers	Lung	lung
50	chr15:35142400-35142600	ZNF genes & repeats	Pancreas	Pancrea

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