Variant report

Variant	nsv829701
Chromosome Location	chr3:120935402-121115932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:252)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr3:121014343-121015554	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr3:121030037-121030310	HepG2	liver:	n/a	chr3:121030079-121030090
3	CEBPB	chr3:120959887-120959918	K562	blood:	n/a	n/a
4	CEBPB	chr3:121024403-121024693	IMR90	lung:	n/a	chr3:121024540-121024551
5	CEBPB	chr3:121024385-121024688	HepG2	liver:	n/a	chr3:121024540-121024551
6	CEBPB	chr3:121030012-121030161	K562	blood:	n/a	chr3:121030079-121030090
7	CEBPB	chr3:121024511-121024633	H1-hESC	embryonic stem cell:	n/a	chr3:121024540-121024551
8	CEBPB	chr3:121014181-121015355	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr3:121024454-121024688	A549	lung:	n/a	chr3:121024540-121024551
10	CEBPB	chr3:121038397-121038535	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr3:121038287-121038620	K562	blood:	n/a	n/a
12	CEBPB	chr3:121038299-121038614	A549	lung:	n/a	n/a
13	CTCF	chr3:121058131-121058156	GM10266	blood:	n/a	n/a
14	CTCF	chr3:120950940-120951210	RPTEC	kidney:	n/a	chr3:120951139-120951160
15	CTCF	chr3:120951120-120951270	BE2_C	brain:	n/a	chr3:120951139-120951160
16	CTCF	chr3:121048020-121048170	MCF-7	breast:	n/a	chr3:121048109-121048130
17	CTCF	chr3:121048028-121048210	MCF-7	breast:	n/a	chr3:121048109-121048130
18	CTCF	chr3:120989368-120989386	Fibrobl	skin:	n/a	n/a
19	CTCF	chr3:120973480-120973630	HRE	kidney:	n/a	n/a
20	CTCF	chr3:121048060-121048210	RPTEC	kidney:	n/a	chr3:121048109-121048130
21	CTCF	chr3:121008200-121008350	GM12864	blood:	n/a	n/a
22	CTCF	chr3:121008180-121008330	GM12866	blood:	n/a	n/a
23	CTCF	chr3:121041162-121041181	GM10266	blood:	n/a	n/a
24	CTCF	chr3:120950980-120951130	BE2_C	brain:	n/a	n/a
25	CTCF	chr3:121107402-121107519	GM13976	blood:	n/a	n/a
26	CTCF	chr3:120976580-120976730	GM12869	blood:	n/a	n/a
27	CTCF	chr3:120973520-120973670	HPAF	blood vessel:	n/a	n/a
28	CTCF	chr3:121048077-121048187	MCF-7	breast:	n/a	chr3:121048109-121048130
29	CTCF	chr3:120951080-120951230	GM12865	blood:	n/a	chr3:120951139-120951160
30	CTCF	chr3:121114673-121114696	Medullo	brain:	n/a	n/a
31	CTCF	chr3:120956614-120956648	Lung_OC	lung:	n/a	n/a
32	CTCF	chr3:120951060-120951210	A549	lung:	n/a	chr3:120951139-120951160
33	CTCF	chr3:121008180-121008330	MCF-7	breast:	n/a	n/a
34	CTCF	chr3:121092691-121092774	ProgFib	skin:	n/a	n/a
35	CTCF	chr3:120951100-120951250	HEK293	kidney:	n/a	chr3:120951139-120951160
36	CTCF	chr3:120951000-120951150	HAc	cerebellar:	n/a	n/a
37	CTCF	chr3:120973420-120973570	MCF-7	breast:	n/a	n/a
38	CTCF	chr3:121072703-121072722	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr3:121008200-121008350	HPAF	blood vessel:	n/a	n/a
40	CTCF	chr3:121048013-121048318	MCF-7	breast:	n/a	chr3:121048109-121048130
41	CTCF	chr3:120973640-120973790	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr3:120951080-120951230	RPTEC	kidney:	n/a	chr3:120951139-120951160
43	CTCF	chr3:121048114-121048129	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr3:121048080-121048230	HMF	breast:	n/a	chr3:121048109-121048130
45	CTCF	chr3:121081220-121081370	GM12871	blood:	n/a	n/a
46	CTCF	chr3:121072654-121072758	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr3:121047960-121048110	MCF-7	breast:	n/a	n/a
48	CTCF	chr3:121008200-121008350	HMEC	breast:	n/a	n/a
49	CTCF	chr3:121008200-121008350	HCFaa	heart:	n/a	n/a
50	CTCF	chr3:121048020-121048170	GM06990	blood:	n/a	chr3:121048109-121048130

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:121025407-121025457	NH-A	brain:	n/a
2	chr3:121025407-121025457	HRCEpiC	kidney:	n/a
3	chr3:121025407-121025457	AG10803	skin:	n/a
4	chr3:121025407-121025457	ovcar-3	ovarian:	n/a
5	chr3:121025407-121025457	NT2-D1	testis:	n/a
6	chr3:121025407-121025457	NHDF-neo	bronchial:	n/a
7	chr3:121025407-121025457	T-47D	breast:	n/a
8	chr3:121025407-121025457	HCM	heart:	n/a
9	chr3:121025407-121025457	SK-N-SH_RA	brain:	n/a
10	chr3:121025407-121025457	AG09319	gingival:	n/a
11	chr3:121025407-121025457	HepG2	liver:	n/a
12	chr3:121025407-121025457	HRPEpiC	eye:	n/a
13	chr3:121025407-121025457	SK-N-SH	brain:	n/a
14	chr3:121025407-121025457	AG04450	lung:	fetal
15	chr3:121025407-121025457	NHBE	bronchial:	n/a
16	chr3:121025407-121025457	HNPCEpiC	eye:	n/a
17	chr3:121025407-121025457	Hepatocyte	liver:	n/a
18	chr3:121025407-121025457	SK-N-MC	brain:	n/a
19	chr3:121025407-121025457	HCF	heart:	n/a
20	chr3:121025407-121025457	GM19239	blood:	n/a
21	chr3:121025407-121025457	ProgFib	skin:	n/a
22	chr3:121025407-121025457	HEEpiC	esophagus:	n/a
23	chr3:121025407-121025457	IMR90	lung:	fetal
24	chr3:121025407-121025457	PFSK-1	brain:	n/a
25	chr3:121025407-121025457	PrEC	prostate:	n/a
26	chr3:121025407-121025457	ECC-1	luminal epithelium:	n/a
27	chr3:121025407-121025457	GM12878	blood:	n/a
28	chr3:121025407-121025457	MCF10A-Er-Src	breast:	n/a
29	chr3:121025407-121025457	MCF-7	breast:	n/a
30	chr3:121025407-121025457	AG04449	skin:	fetal
31	chr3:121025407-121025457	HAEpiC	amniotic membrane:	n/a
32	chr3:121025407-121025457	Caco-2	colon:	n/a
33	chr3:121025407-121025457	K562	blood:	n/a
34	chr3:121025407-121025457	LNCaP	prostate:	n/a
35	chr3:121025407-121025457	SAEC	small airway:	n/a
36	chr3:121025407-121025457	A549	lung:	n/a
37	chr3:121025407-121025457	HPAEpiC	pulmonary alveolar:	n/a
38	chr3:121025407-121025457	H1-hESC	embryonic stem cell:	embryo
39	chr3:121025407-121025457	HEK293	kidney:	embryo
40	chr3:121025407-121025457	NB4	blood:	n/a
41	chr3:121025407-121025457	RPTEC	kidney:	n/a
42	chr3:121025407-121025457	HUVEC	blood vessel:	n/a
43	chr3:121025407-121025457	Hela-S3	cervix:	n/a
44	chr3:121025407-121025457	SKMC	muscle:	n/a
45	chr3:121025407-121025457	BJ	skin:	n/a
46	chr3:121025407-121025457	HCT-116	colon:	n/a
47	chr3:121025407-121025457	U87	brain:	n/a
48	chr3:121025407-121025457	AoSMC	blood vessel:	n/a
49	chr3:121025407-121025457	HIPEpiC	eye:	n/a
50	chr3:121025407-121025457	PANC-1	pancreas:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:121004364..121006948-chr3:121012227..121014018,2	MCF-7	breast:
2	chr3:121004364..121006948-chr3:121012227..121014018,2	MCF-7	breast:
3	chr3:121047561..121048621-chr3:121247919..121248785,3	MCF-7	breast:
4	chr20:17868453..17869206-chr3:121103732..121104423,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARGFX-1	chr3:121075838-121076787	NONHSAT091471

No data

Variant related genes	Relation type
ENSG00000242103	TF binding region
ENSG00000242103	CpG island
ENSG00000233625	chromatin interactions

Extended variants
information (count: 4566 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:4566 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141796414	chr3:120935407-120935408	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150582144	chr3:120935408-120935409	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114032933	chr3:120935416-120935417	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568543890	chr3:120935450-120935451	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571377526	chr3:120935465-120935466	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs338960	chr3:120935479-120935480	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs556727206	chr3:120935480-120935481	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115307794	chr3:120935505-120935506	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139585578	chr3:120935552-120935553	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552982299	chr3:120935558-120935559	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573156573	chr3:120935562-120935563	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570559672	chr3:120935587-120935588	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545399761	chr3:120935612-120935613	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559159157	chr3:120935613-120935614	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143363099	chr3:120935622-120935623	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544862668	chr3:120935633-120935634	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561465090	chr3:120935637-120935638	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529029025	chr3:120935642-120935643	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542730959	chr3:120935660-120935661	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559409593	chr3:120935722-120935723	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528063442	chr3:120935753-120935754	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371060946	chr3:120935769-120935770	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147843321	chr3:120935779-120935780	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146707640	chr3:120935817-120935818	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139197064	chr3:120935863-120935864	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114144143	chr3:120935869-120935870	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550386888	chr3:120935875-120935876	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181314656	chr3:120935878-120935879	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35140936	chr3:120935898-120935899	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374712661	chr3:120935900-120935901	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185899942	chr3:120935918-120935919	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536361000	chr3:120935935-120935936	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553288758	chr3:120935939-120935940	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553021181	chr3:120935961-120935962	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566755093	chr3:120936017-120936018	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538983472	chr3:120936069-120936070	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558670812	chr3:120936070-120936071	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575942206	chr3:120936074-120936075	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538519173	chr3:120936101-120936102	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555238700	chr3:120936102-120936103	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575054648	chr3:120936103-120936104	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542769648	chr3:120936124-120936125	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566792802	chr3:120936138-120936139	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368774698	chr3:120936149-120936150	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73191436	chr3:120936183-120936184	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs572839711	chr3:120936187-120936188	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117076188	chr3:120936194-120936195	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564702101	chr3:120936195-120936196	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188280574	chr3:120936204-120936205	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181047024	chr3:120936213-120936214	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Developmental delay	22180640	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
lymphocytic leukemia	21291569	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	22241247	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	17953491	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Cancer	20164919	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120935400-120936400	Strong transcription	Ovary	ovary
2	chr3:120936200-120936400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:120936400-120955800	Weak transcription	Ovary	ovary
4	chr3:120945000-120945200	Enhancers	Brain Anterior Caudate	brain
5	chr3:120945400-120965200	Weak transcription	Brain Anterior Caudate	brain
6	chr3:120950000-120950800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:120950800-120951000	Enhancers	HMEC	breast
8	chr3:120950800-120951800	Enhancers	Pancreas	Pancrea
9	chr3:120951200-120951800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr3:120951600-120951800	Enhancers	HMEC	breast
11	chr3:120951800-120962600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr3:120955800-120957000	Strong transcription	Ovary	ovary
13	chr3:120956000-120956600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:120956200-120956600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr3:120957000-120960200	Weak transcription	Ovary	ovary
16	chr3:120958200-120963800	Weak transcription	Brain Angular Gyrus	brain
17	chr3:120960200-120960600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:120960200-120960600	Strong transcription	Ovary	ovary
19	chr3:120960400-120960800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr3:120960600-120961600	Weak transcription	Ovary	ovary
21	chr3:120960800-120961800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:120961600-120962000	Strong transcription	Ovary	ovary
23	chr3:120961800-120962200	Enhancers	Hela-S3	cervix
24	chr3:120961800-120963800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:120962000-120993000	Weak transcription	Ovary	ovary
26	chr3:120962400-120962600	Weak transcription	Brain Germinal Matrix	brain
27	chr3:120963000-120963400	ZNF genes & repeats	Brain Germinal Matrix	brain
28	chr3:120964800-120965000	Enhancers	Esophagus	oesophagus
29	chr3:120980400-120982800	Weak transcription	Brain Germinal Matrix	brain
30	chr3:120993000-120993600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr3:120993000-120993800	ZNF genes & repeats	Ovary	ovary
32	chr3:120993200-120993600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:120993200-120993800	ZNF genes & repeats	Pancreas	Pancrea
34	chr3:120993400-120993800	ZNF genes & repeats	Gastric	stomach
35	chr3:120993800-120996600	Weak transcription	Ovary	ovary
36	chr3:120996600-120997200	Strong transcription	Ovary	ovary
37	chr3:120997200-121015600	Weak transcription	Ovary	ovary
38	chr3:121011800-121015600	Enhancers	HUVEC	blood vessel
39	chr3:121013000-121015800	Enhancers	Hela-S3	cervix
40	chr3:121014000-121015600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr3:121023600-121024400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr3:121023800-121024200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:121023800-121024400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:121033600-121052200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr3:121043000-121043200	Enhancers	Ovary	ovary
46	chr3:121043200-121049000	Weak transcription	Ovary	ovary
47	chr3:121048400-121049400	Enhancers	Fetal Heart	heart
48	chr3:121049000-121050000	Strong transcription	Ovary	ovary
49	chr3:121049000-121050000	Enhancers	HSMMtube	muscle
50	chr3:121049400-121049600	Flanking Active TSS	Fetal Heart	heart

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