Variant report

Variant	esv1847393
Chromosome Location	chr3:75737960-75793505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1339)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1339 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:75770122-75770154	HepG2	liver:	n/a	n/a
2	ARID3A	chr3:75739156-75739286	K562	blood:	n/a	n/a
3	ARID3A	chr3:75754843-75755270	K562	blood:	n/a	n/a
4	ATF1	chr3:75769325-75769986	K562	blood:	n/a	n/a
5	ATF1	chr3:75746545-75746765	K562	blood:	n/a	n/a
6	ATF1	chr3:75771441-75772260	K562	blood:	n/a	n/a
7	ATF1	chr3:75755512-75756182	K562	blood:	n/a	n/a
8	ATF1	chr3:75783726-75784839	K562	blood:	n/a	n/a
9	ATF1	chr3:75759504-75760427	K562	blood:	n/a	n/a
10	ATF1	chr3:75743644-75744222	K562	blood:	n/a	n/a
11	ATF1	chr3:75736867-75738707	K562	blood:	n/a	n/a
12	ATF1	chr3:75777037-75777776	K562	blood:	n/a	n/a
13	ATF1	chr3:75787686-75789584	K562	blood:	n/a	n/a
14	ATF1	chr3:75779002-75782622	K562	blood:	n/a	n/a
15	ATF1	chr3:75763746-75764601	K562	blood:	n/a	n/a
16	ATF1	chr3:75761625-75762259	K562	blood:	n/a	n/a
17	ATF1	chr3:75754856-75755222	K562	blood:	n/a	n/a
18	ATF1	chr3:75785062-75787392	K562	blood:	n/a	n/a
19	ATF1	chr3:75750030-75750205	K562	blood:	n/a	n/a
20	ATF1	chr3:75789795-75794952	K562	blood:	n/a	n/a
21	ATF1	chr3:75760657-75761408	K562	blood:	n/a	n/a
22	ATF1	chr3:75773435-75776229	K562	blood:	n/a	n/a
23	ATF1	chr3:75747229-75747380	K562	blood:	n/a	n/a
24	ATF1	chr3:75778219-75778585	K562	blood:	n/a	n/a
25	ATF1	chr3:75740338-75740804	K562	blood:	n/a	n/a
26	ATF1	chr3:75745544-75745744	K562	blood:	n/a	n/a
27	ATF1	chr3:75765400-75768808	K562	blood:	n/a	n/a
28	ATF1	chr3:75762715-75762961	K562	blood:	n/a	n/a
29	ATF3	chr3:75788958-75789896	K562	blood:	n/a	n/a
30	BACH1	chr3:75740483-75740494	K562	blood:	n/a	n/a
31	BACH1	chr3:75787478-75787482	K562	blood:	n/a	n/a
32	BACH1	chr3:75739253-75739499	K562	blood:	n/a	n/a
33	BACH1	chr3:75744812-75745060	K562	blood:	n/a	n/a
34	BCL3	chr3:75768536-75768746	K562	blood:	n/a	n/a
35	BDP1	chr3:75738238-75739465	Hela-S3	cervix:	n/a	n/a
36	BDP1	chr3:75740264-75741168	Hela-S3	cervix:	n/a	n/a
37	BDP1	chr3:75787581-75788623	K562	blood:	n/a	n/a
38	BDP1	chr3:75759163-75760279	Hela-S3	cervix:	n/a	n/a
39	BDP1	chr3:75760903-75761397	Hela-S3	cervix:	n/a	n/a
40	BDP1	chr3:75786511-75788383	Hela-S3	cervix:	n/a	n/a
41	BDP1	chr3:75755278-75756197	Hela-S3	cervix:	n/a	n/a
42	BHLHE40	chr3:75738537-75738581	K562	blood:	n/a	n/a
43	BHLHE40	chr3:75741025-75741068	K562	blood:	n/a	n/a
44	BHLHE40	chr3:75737980-75738115	GM12878	blood:	n/a	n/a
45	BRCA1	chr3:75784541-75784679	GM12878	blood:	n/a	n/a
46	BRCA1	chr3:75765896-75765898	GM12878	blood:	n/a	n/a
47	BRCA1	chr3:75787454-75787585	GM12878	blood:	n/a	n/a
48	BRCA1	chr3:75754134-75754144	GM12878	blood:	n/a	n/a
49	BRCA1	chr3:75738463-75738670	GM12878	blood:	n/a	n/a
50	BRCA1	chr3:75747691-75747699	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:75790783..75791412-chr6:15280318..15280818,2	MCF-7	breast:
2	chr17:56709052..56711813-chr3:75770362..75772517,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTN3-1	chr3:75762167-75762465	NONHSAT090550

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4273	chr3:75787441-75787458	MIMAT0016903

No data

Variant related genes	Relation type
MIR4273	TF binding region
RN7SL92P	TF binding region
ENSG00000212195	chromatin interactions

Extended variants
information (count: 6226 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:6226 , 50 per page) page: 1 2 3 4 5 6 7 ... 125

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73112941	chr3:75737962-75737963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs147628290	chr3:75737966-75737967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs80289271	chr3:75737971-75737972	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs369934537	chr3:75737986-75737987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs74589143	chr3:75737989-75737990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs75073194	chr3:75738006-75738007	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs138738804	chr3:75738010-75738011	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs80045445	chr3:75738033-75738034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs111313001	chr3:75738035-75738036	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs373424604	chr3:75738038-75738039	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs79389092	chr3:75738046-75738047	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs76937845	chr3:75738047-75738048	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs576884038	chr3:75738048-75738049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs534838781	chr3:75738049-75738050	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs141410577	chr3:75738055-75738056	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs376586097	chr3:75738058-75738059	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs73840392	chr3:75738060-75738061	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369542267	chr3:75738068-75738069	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201007685	chr3:75738073-75738074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs76963209	chr3:75738074-75738075	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373420491	chr3:75738075-75738076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs80232117	chr3:75738076-75738077	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111509770	chr3:75738078-75738079	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs376023730	chr3:75738081-75738082	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs370345917	chr3:75738085-75738086	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs79891627	chr3:75738093-75738094	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76201363	chr3:75738094-75738095	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs376720668	chr3:75738098-75738099	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs372551168	chr3:75738100-75738101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs375575719	chr3:75738105-75738106	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs78993555	chr3:75738116-75738117	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs77429443	chr3:75738122-75738123	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs75640392	chr3:75738132-75738133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs78785213	chr3:75738133-75738134	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs112712602	chr3:75738138-75738139	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs371153568	chr3:75738143-75738144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs374539824	chr3:75738157-75738158	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs73840393	chr3:75738158-75738159	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs113484567	chr3:75738159-75738160	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs77435829	chr3:75738160-75738161	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs368608399	chr3:75738168-75738169	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs536712	chr3:75738177-75738178	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs76793188	chr3:75738178-75738179	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370870982	chr3:75738183-75738184	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375059539	chr3:75738197-75738198	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78722132	chr3:75738201-75738202	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs575498704	chr3:75738209-75738210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs76144043	chr3:75738231-75738232	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs62250014	chr3:75738234-75738235	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545443309	chr3:75738235-75738236	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	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
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Prostate cancer	18632612	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21858162	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75723200-75739200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:75730600-75742200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:75735000-75738200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
4	chr3:75735200-75750600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr3:75735800-75738200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr3:75737000-75738600	Weak transcription	Right Ventricle	heart
7	chr3:75737000-75741800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:75737200-75738400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:75737200-75738400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:75737200-75738400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:75737200-75738400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:75737200-75738400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr3:75737200-75738400	Weak transcription	Aorta	Aorta
14	chr3:75737200-75738400	Weak transcription	Brain Angular Gyrus	brain
15	chr3:75737200-75738400	Weak transcription	Brain Anterior Caudate	brain
16	chr3:75737200-75738400	Weak transcription	Esophagus	oesophagus
17	chr3:75737200-75738400	Weak transcription	Fetal Lung	lung
18	chr3:75737200-75738400	Weak transcription	Gastric	stomach
19	chr3:75737200-75738400	Weak transcription	Lung	lung
20	chr3:75737200-75738400	Weak transcription	Pancreas	Pancrea
21	chr3:75737200-75738400	Weak transcription	NHDF-Ad	bronchial
22	chr3:75738400-75738800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:75738400-75738800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:75738400-75738800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:75738400-75738800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:75738400-75738800	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
27	chr3:75738400-75738800	ZNF genes & repeats	Brain Anterior Caudate	brain
28	chr3:75738400-75738800	ZNF genes & repeats	Esophagus	oesophagus
29	chr3:75738400-75738800	ZNF genes & repeats	Gastric	stomach
30	chr3:75738400-75738800	ZNF genes & repeats	Lung	lung
31	chr3:75738400-75738800	ZNF genes & repeats	Pancreas	Pancrea
32	chr3:75738400-75738800	ZNF genes & repeats	NHDF-Ad	bronchial
33	chr3:75738400-75739000	ZNF genes & repeats	Aorta	Aorta
34	chr3:75738400-75739000	ZNF genes & repeats	Fetal Lung	lung
35	chr3:75738400-75739200	ZNF genes & repeats	Brain Angular Gyrus	brain
36	chr3:75738400-75739600	ZNF genes & repeats	Fetal Brain Male	brain
37	chr3:75738400-75741600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
38	chr3:75738600-75738800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
39	chr3:75738600-75738800	Enhancers	Right Ventricle	heart
40	chr3:75738800-75739800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:75739800-75740000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr3:75740000-75747600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
43	chr3:75740200-75750400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr3:75740400-75741400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
45	chr3:75740400-75742000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:75740400-75742200	ZNF genes & repeats	Fetal Brain Male	brain
47	chr3:75740600-75742200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr3:75741000-75741400	ZNF genes & repeats	Fetal Heart	heart
49	chr3:75741000-75742000	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr3:75741000-75742200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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