Variant report

Variant	nsv946150
Chromosome Location	chr1:113740887-113742094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:244)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:113741263-113741463	A549	lung:	n/a	chr1:113741375-113741386
2	CEBPB	chr1:113741317-113741514	HepG2	liver:	n/a	chr1:113741375-113741386
3	CEBPB	chr1:113741271-113741469	K562	blood:	n/a	chr1:113741375-113741386
4	CTCF	chr1:113741672-113741738	GM13976	blood:	n/a	n/a
5	EBF1	chr1:113740666-113741004	GM12878	blood:	n/a	chr1:113740847-113740858 chr1:113740870-113740880
6	EBF1	chr1:113740669-113741107	GM12878	blood:	n/a	chr1:113740847-113740858 chr1:113740870-113740880
7	EBF1	chr1:113740627-113741067	GM12878	blood:	n/a	chr1:113740847-113740858 chr1:113740870-113740880
8	FOS	chr1:113741203-113741399	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr1:113741277-113741394	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr1:113741259-113741409	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr1:113741460-113741638	GM12878	blood:	n/a	n/a
12	POLR2A	chr1:113741685-113741771	A549	lung:	n/a	n/a
13	POLR2A	chr1:113741541-113741903	GM12892	blood:	n/a	n/a
14	STAT3	chr1:113741279-113741476	MCF10A-Er-Src	breast:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:113741631-113741681	HNPCEpiC	eye:	n/a
2	chr1:113741631-113741681	GM12891	blood:	n/a
3	chr1:113741631-113741681	Hepatocyte	liver:	n/a
4	chr1:113741483-113741533	BJ	skin:	n/a
5	chr1:113741744-113741794	Hela-S3	cervix:	n/a
6	chr1:113741744-113741794	AG04449	skin:	fetal
7	chr1:113741705-113741755	HEEpiC	esophagus:	n/a
8	chr1:113741631-113741681	AG04449	skin:	fetal
9	chr1:113741483-113741533	ovcar-3	ovarian:	n/a
10	chr1:113741744-113741794	ProgFib	skin:	n/a
11	chr1:113741483-113741533	HIPEpiC	eye:	n/a
12	chr1:113741705-113741755	HNPCEpiC	eye:	n/a
13	chr1:113741631-113741681	BJ	skin:	n/a
14	chr1:113741705-113741755	HL-60	blood:	n/a
15	chr1:113741744-113741794	T-47D	breast:	n/a
16	chr1:113741744-113741794	A549	lung:	n/a
17	chr1:113741705-113741755	T-47D	breast:	n/a
18	chr1:113741483-113741533	ECC-1	luminal epithelium:	n/a
19	chr1:113741744-113741794	ECC-1	luminal epithelium:	n/a
20	chr1:113741631-113741681	MCF10A-Er-Src	breast:	n/a
21	chr1:113741631-113741681	HRCEpiC	kidney:	n/a
22	chr1:113741483-113741533	T-47D	breast:	n/a
23	chr1:113741631-113741681	HCT-116	colon:	n/a
24	chr1:113741631-113741681	SAEC	small airway:	n/a
25	chr1:113741631-113741681	RPTEC	kidney:	n/a
26	chr1:113741483-113741533	HRCEpiC	kidney:	n/a
27	chr1:113741705-113741755	HCF	heart:	n/a
28	chr1:113741631-113741681	GM12892	blood:	n/a
29	chr1:113741744-113741794	SKMC	muscle:	n/a
30	chr1:113741705-113741755	MCF10A-Er-Src	breast:	n/a
31	chr1:113741744-113741794	HL-60	blood:	n/a
32	chr1:113741483-113741533	Hela-S3	cervix:	n/a
33	chr1:113741483-113741533	PrEC	prostate:	n/a
34	chr1:113741705-113741755	Caco-2	colon:	n/a
35	chr1:113741705-113741755	NH-A	brain:	n/a
36	chr1:113741631-113741681	IMR90	lung:	fetal
37	chr1:113741631-113741681	SK-N-MC	brain:	n/a
38	chr1:113741483-113741533	HAEpiC	amniotic membrane:	n/a
39	chr1:113741483-113741533	AG04450	lung:	fetal
40	chr1:113741483-113741533	Hepatocyte	liver:	n/a
41	chr1:113741705-113741755	HepG2	liver:	n/a
42	chr1:113741483-113741533	LNCaP	prostate:	n/a
43	chr1:113741631-113741681	HIPEpiC	eye:	n/a
44	chr1:113741705-113741755	AoSMC	blood vessel:	n/a
45	chr1:113741631-113741681	BE2_C	brain:	n/a
46	chr1:113741483-113741533	GM12892	blood:	n/a
47	chr1:113741631-113741681	NHDF-neo	bronchial:	n/a
48	chr1:113741483-113741533	GM12878	blood:	n/a
49	chr1:113741631-113741681	NB4	blood:	n/a
50	chr1:113741744-113741794	NHBE	bronchial:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113737370..113741159-chr1:113741484..113744250,4	K562	blood:
2	chr1:113737370..113741159-chr1:113741484..113744250,4	K562	blood:
3	chr1:113736589..113741335-chr1:113931781..113934442,4	MCF-7	breast:
4	chr1:113733744..113735445-chr1:113739417..113740943,2	MCF-7	breast:
5	chr1:113737275..113741073-chr1:113748571..113751265,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC16A1-6	chr1:113739404-113741312	NONHSAT005321

No data

Variant related genes	Relation type
ENSG00000236887	TF binding region
ENSG00000236887	CpG island
ENSG00000081026	chromatin interactions

Extended variants
information (count: 56 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368970854	chr1:113740932-113740933	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs543246809	chr1:113741003-113741004	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs146491949	chr1:113741007-113741008	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs112481664	chr1:113741048-113741049	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs529195137	chr1:113741073-113741074	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs542867166	chr1:113741168-113741169	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs369983223	chr1:113741178-113741179	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs375283334	chr1:113741209-113741210	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs3178435	chr1:113741221-113741222	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs549405989	chr1:113741268-113741269	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs567713144	chr1:113741285-113741286	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs182585110	chr1:113741296-113741297	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs528139996	chr1:113741299-113741300	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs148859131	chr1:113741303-113741304	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs553494934	chr1:113741319-113741320	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs571402921	chr1:113741360-113741361	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs116677245	chr1:113741391-113741392	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs116296461	chr1:113741398-113741399	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs570183003	chr1:113741412-113741413	Weak transcription Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs535780599	chr1:113741474-113741475	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs556062945	chr1:113741501-113741502	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs533251241	chr1:113741508-113741509	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs12125675	chr1:113741509-113741510	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534723848	chr1:113741517-113741518	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs557370595	chr1:113741578-113741579	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs557714600	chr1:113741580-113741581	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs61733332	chr1:113741581-113741582	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs185560374	chr1:113741612-113741613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575576353	chr1:113741618-113741619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61732477	chr1:113741619-113741620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142544699	chr1:113741642-113741643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12125708	chr1:113741644-113741645	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs528382509	chr1:113741692-113741693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs12118061	chr1:113741706-113741707	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572576542	chr1:113741732-113741733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564848991	chr1:113741758-113741759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539968242	chr1:113741780-113741781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530627204	chr1:113741801-113741802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs550607707	chr1:113741811-113741812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6695307	chr1:113741841-113741842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567238211	chr1:113741847-113741848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529534649	chr1:113741852-113741853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34861121	chr1:113741913-113741914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113473814	chr1:113741915-113741916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10689132	chr1:113741924-113741925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199876117	chr1:113741925-113741926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372996512	chr1:113741926-113741927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs55990173	chr1:113741943-113741944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35499469	chr1:113741974-113741975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199814094	chr1:113742001-113742002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Non-syndromic sensorineural hearing loss	21030649	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
Bipolar disorder	19114987	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113733400-113745200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:113734800-113741400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:113735000-113742400	Weak transcription	K562	blood
4	chr1:113736200-113741000	Weak transcription	Lung	lung
5	chr1:113738000-113741800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:113738800-113741200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:113738800-113742400	Weak transcription	Fetal Intestine Small	intestine
8	chr1:113738800-113742600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr1:113738800-113745400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:113739800-113741600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:113739800-113742400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:113739800-113742400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:113740000-113742200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:113740400-113741800	Enhancers	Esophagus	oesophagus
15	chr1:113740400-113742400	Weak transcription	Fetal Kidney	kidney
16	chr1:113740400-113743400	Enhancers	Placenta	Placenta
17	chr1:113740600-113742200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:113740800-113742000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:113740800-113742400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:113741000-113741800	Enhancers	Lung	lung
21	chr1:113741000-113742200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:113741200-113742200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:113741400-113741600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr1:113741400-113741600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr1:113741600-113741800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr1:113741600-113742000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:113741600-113742400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:113741800-113742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:113741800-113752200	Weak transcription	Lung	lung
30	chr1:113742000-113743000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr1:113742000-113743400	Enhancers	HUES64 Cell Line	embryonic stem cell

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