Variant report

Variant	nsv947128
Chromosome Location	chr1:114088844-114122533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:114089260-114089410	GM12875	blood:	n/a	n/a
2	CTCF	chr1:114089200-114089350	HEK293	kidney:	n/a	n/a
3	CTCF	chr1:114089280-114089430	MCF-7	breast:	n/a	n/a
4	CTCF	chr1:114089260-114089410	HPAF	blood vessel:	n/a	n/a
5	CTCF	chr1:114089240-114089390	HBMEC	blood vessel:	n/a	n/a
6	CTCF	chr1:114089260-114089410	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr1:114089442-114089515	GM20000	blood:	n/a	n/a
8	CTCF	chr1:114089260-114089410	NHEK	skin:	n/a	n/a
9	CTCF	chr1:114089280-114089430	GM12873	blood:	n/a	n/a
10	CTCF	chr1:114089360-114089510	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr1:114089280-114089430	HCFaa	heart:	n/a	n/a
12	CTCF	chr1:114101376-114101428	GM20000	blood:	n/a	n/a
13	CTCF	chr1:114091080-114091230	BE2_C	brain:	n/a	n/a
14	CTCF	chr1:114089260-114089410	GM12869	blood:	n/a	n/a
15	CTCF	chr1:114111340-114111490	HPF	lung:	n/a	n/a
16	CTCF	chr1:114089240-114089390	GM12873	blood:	n/a	n/a
17	ELK1	chr1:114121129-114121130	Hela-S3	cervix:	n/a	n/a
18	ELK1	chr1:114121673-114121729	Hela-S3	cervix:	n/a	n/a
19	EP300	chr1:114094622-114094679	K562	blood:	n/a	n/a
20	FOS	chr1:114094413-114094748	MCF10A-Er-Src	breast:	n/a	chr1:114094551-114094562
21	FOS	chr1:114099963-114100023	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr1:114094398-114094694	MCF10A-Er-Src	breast:	n/a	chr1:114094551-114094562
23	FOS	chr1:114094221-114094707	HUVEC	blood vessel:	n/a	chr1:114094551-114094562
24	FOS	chr1:114094426-114094691	MCF10A-Er-Src	breast:	n/a	chr1:114094551-114094562
25	GATA3	chr1:114094865-114095418	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr1:114094795-114095441	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr1:114122264-114122750	MCF-7	breast:	n/a	n/a
28	GATA3	chr1:114111770-114111965	SH-SY5Y	brain:	n/a	chr1:114111931-114111939
29	KAP1	chr1:114110058-114110785	K562	blood:	n/a	n/a
30	MAFK	chr1:114109513-114109548	HepG2	liver:	n/a	chr1:114109526-114109541
31	MAFK	chr1:114090603-114090763	HepG2	liver:	n/a	n/a
32	MAFK	chr1:114109468-114109571	HepG2	liver:	n/a	chr1:114109526-114109541
33	MYC	chr1:114096907-114096920	H1-hESC	embryonic stem cell:	n/a	n/a
34	NFIC	chr1:114094778-114095295	SK-N-SH	brain:	n/a	n/a
35	PBX3	chr1:114094914-114095359	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr1:114102652-114102664	K562	blood:	n/a	n/a
37	POLR2A	chr1:114102324-114102358	HepG2	liver:	n/a	n/a
38	POLR2A	chr1:114111777-114111797	ProgFib	skin:	n/a	n/a
39	POLR2A	chr1:114094929-114095323	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr1:114092233-114092286	K562	blood:	n/a	n/a
41	POLR2A	chr1:114108009-114108022	K562	blood:	n/a	n/a
42	POLR2A	chr1:114100204-114100218	MCF-7	breast:	n/a	n/a
43	POLR2A	chr1:114097943-114098043	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr1:114093802-114093819	HepG2	liver:	n/a	n/a
45	POLR2A	chr1:114106407-114106451	K562	blood:	n/a	n/a
46	POLR2A	chr1:114090224-114090277	K562	blood:	n/a	n/a
47	POLR2A	chr1:114090603-114090643	MCF-7	breast:	n/a	n/a
48	POLR2A	chr1:114093800-114093910	MCF-7	breast:	n/a	n/a
49	POLR2A	chr1:114110413-114110420	MCF-7	breast:	n/a	n/a
50	POLR2A	chr1:114111032-114111086	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114110456..114112451-chr1:114117714..114119729,2	MCF-7	breast:
2	chr1:114089317..114091954-chr1:114097454..114100252,3	MCF-7	breast:
3	chr1:114084981..114088872-chr1:114091176..114094977,3	MCF-7	breast:
4	chr1:114089317..114091954-chr1:114097454..114100252,3	MCF-7	breast:
5	chr1:114082118..114084710-chr1:114087135..114089127,2	MCF-7	breast:
6	chr1:114089209..114091703-chr1:114094338..114096196,2	K562	blood:
7	chr1:114089209..114091703-chr1:114094338..114096196,2	K562	blood:
8	chr1:114078894..114080860-chr1:114093812..114095778,2	K562	blood:
9	chr1:114119566..114123326-chr1:114126840..114129561,3	MCF-7	breast:
10	chr1:114084981..114088872-chr1:114091176..114094977,3	MCF-7	breast:

No data

Variant related genes	Relation type
MTND5P20	TF binding region
ENSG00000238256	chromatin interactions

Extended variants
information (count: 1138 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1138 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143244769	chr1:114088879-114088880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567227556	chr1:114088905-114088906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111617050	chr1:114088915-114088916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374506407	chr1:114088968-114088969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148307492	chr1:114089018-114089019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7518766	chr1:114089089-114089090	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376474252	chr1:114089140-114089141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535227729	chr1:114089156-114089157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575876698	chr1:114089159-114089160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558282516	chr1:114089179-114089180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571854608	chr1:114089222-114089223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71662835	chr1:114089239-114089240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537715048	chr1:114089269-114089270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188422270	chr1:114089274-114089275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573673668	chr1:114089315-114089316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs17013326	chr1:114089316-114089317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs376147672	chr1:114089333-114089334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191247823	chr1:114089369-114089370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150441127	chr1:114089381-114089382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12750719	chr1:114089454-114089455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12725741	chr1:114089471-114089472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182992898	chr1:114089520-114089521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373918207	chr1:114089521-114089522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77968486	chr1:114089531-114089532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10858003	chr1:114089547-114089548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs529705316	chr1:114089578-114089579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546766134	chr1:114089584-114089585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146107669	chr1:114089649-114089650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188419468	chr1:114089658-114089659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551698887	chr1:114089676-114089677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571783097	chr1:114089683-114089684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537369997	chr1:114089684-114089685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550539942	chr1:114089704-114089705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75603474	chr1:114089719-114089720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34939802	chr1:114089720-114089721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557613629	chr1:114089797-114089798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567361596	chr1:114089842-114089843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192247806	chr1:114089848-114089849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139027671	chr1:114089870-114089871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200954222	chr1:114089915-114089916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573066629	chr1:114089918-114089919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555575995	chr1:114089945-114089946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573017645	chr1:114089975-114089976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570286676	chr1:114090025-114090026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374008074	chr1:114090067-114090068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79577229	chr1:114090090-114090091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550377794	chr1:114090172-114090173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375813235	chr1:114090179-114090180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113505132	chr1:114090192-114090193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551415402	chr1:114090210-114090211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:227 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114072200-114095800	Weak transcription	Aorta	Aorta
2	chr1:114078000-114090000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:114082600-114100400	Weak transcription	Fetal Kidney	kidney
4	chr1:114083200-114099800	Weak transcription	Pancreas	Pancrea
5	chr1:114083400-114095200	Weak transcription	Liver	Liver
6	chr1:114083400-114100000	Weak transcription	Ovary	ovary
7	chr1:114083400-114110000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:114084000-114092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:114084600-114089800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr1:114084800-114095200	Weak transcription	Fetal Intestine Large	intestine
11	chr1:114084800-114095600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:114085000-114092400	Weak transcription	Fetal Intestine Small	intestine
13	chr1:114085600-114093600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:114085600-114094000	Weak transcription	HMEC	breast
15	chr1:114085600-114094200	Weak transcription	NHDF-Ad	bronchial
16	chr1:114085600-114101800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:114088200-114102000	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:114088600-114099600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:114088600-114101000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:114088600-114109800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:114088800-114093800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:114088800-114094200	Weak transcription	NHEK	skin
23	chr1:114089200-114089600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:114089800-114091000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:114089800-114091600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr1:114090000-114090800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr1:114090000-114090800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:114090000-114091000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:114090000-114091200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:114090400-114091200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:114090400-114093000	Weak transcription	HepG2	liver
32	chr1:114090400-114099800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:114090800-114093600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:114091000-114093600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:114091000-114099800	Weak transcription	Left Ventricle	heart
36	chr1:114091200-114091600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr1:114091200-114093600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:114091200-114093600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:114091200-114101800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:114091600-114093600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:114092000-114092400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:114092000-114099600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:114092200-114099200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:114092400-114093200	Strong transcription	Fetal Intestine Small	intestine
45	chr1:114092400-114097200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:114092400-114099600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:114092400-114101600	Weak transcription	Adipose Nuclei	Adipose
48	chr1:114093200-114096200	Weak transcription	Fetal Intestine Small	intestine
49	chr1:114093400-114099800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:114093600-114093800	Enhancers	HUES6 Cell Line	embryonic stem cell

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