Variant report

Variant	esv1845876
Chromosome Location	chr3:75732860-75813330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2126)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:2126 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:75754843-75755270	K562	blood:	n/a	n/a
2	ARID3A	chr3:75770122-75770154	HepG2	liver:	n/a	n/a
3	ARID3A	chr3:75739156-75739286	K562	blood:	n/a	n/a
4	ARID3A	chr3:75736701-75737480	K562	blood:	n/a	n/a
5	ATF1	chr3:75762715-75762961	K562	blood:	n/a	n/a
6	ATF1	chr3:75777037-75777776	K562	blood:	n/a	n/a
7	ATF1	chr3:75760657-75761408	K562	blood:	n/a	n/a
8	ATF1	chr3:75746545-75746765	K562	blood:	n/a	n/a
9	ATF1	chr3:75789795-75794952	K562	blood:	n/a	n/a
10	ATF1	chr3:75734703-75734852	K562	blood:	n/a	n/a
11	ATF1	chr3:75755512-75756182	K562	blood:	n/a	n/a
12	ATF1	chr3:75787686-75789584	K562	blood:	n/a	n/a
13	ATF1	chr3:75779002-75782622	K562	blood:	n/a	n/a
14	ATF1	chr3:75763746-75764601	K562	blood:	n/a	n/a
15	ATF1	chr3:75740338-75740804	K562	blood:	n/a	n/a
16	ATF1	chr3:75747229-75747380	K562	blood:	n/a	n/a
17	ATF1	chr3:75765400-75768808	K562	blood:	n/a	n/a
18	ATF1	chr3:75750030-75750205	K562	blood:	n/a	n/a
19	ATF1	chr3:75735948-75736287	K562	blood:	n/a	n/a
20	ATF1	chr3:75754856-75755222	K562	blood:	n/a	n/a
21	ATF1	chr3:75778219-75778585	K562	blood:	n/a	n/a
22	ATF1	chr3:75743644-75744222	K562	blood:	n/a	n/a
23	ATF1	chr3:75761625-75762259	K562	blood:	n/a	n/a
24	ATF1	chr3:75735197-75735394	K562	blood:	n/a	n/a
25	ATF1	chr3:75769325-75769986	K562	blood:	n/a	n/a
26	ATF1	chr3:75759504-75760427	K562	blood:	n/a	n/a
27	ATF1	chr3:75783726-75784839	K562	blood:	n/a	n/a
28	ATF1	chr3:75733400-75734148	K562	blood:	n/a	n/a
29	ATF1	chr3:75771441-75772260	K562	blood:	n/a	n/a
30	ATF1	chr3:75785062-75787392	K562	blood:	n/a	n/a
31	ATF1	chr3:75745544-75745744	K562	blood:	n/a	n/a
32	ATF1	chr3:75773435-75776229	K562	blood:	n/a	n/a
33	ATF1	chr3:75736867-75738707	K562	blood:	n/a	n/a
34	ATF3	chr3:75788958-75789896	K562	blood:	n/a	n/a
35	BACH1	chr3:75739253-75739499	K562	blood:	n/a	n/a
36	BACH1	chr3:75736972-75737792	K562	blood:	n/a	n/a
37	BACH1	chr3:75740483-75740494	K562	blood:	n/a	n/a
38	BACH1	chr3:75787478-75787482	K562	blood:	n/a	n/a
39	BACH1	chr3:75735200-75735345	K562	blood:	n/a	n/a
40	BACH1	chr3:75734445-75734852	K562	blood:	n/a	n/a
41	BACH1	chr3:75744812-75745060	K562	blood:	n/a	n/a
42	BATF	chr3:75804084-75804405	GM12878	blood:	n/a	n/a
43	BATF	chr3:75809554-75809812	GM12878	blood:	n/a	n/a
44	BATF	chr3:75802230-75802905	GM12878	blood:	n/a	n/a
45	BATF	chr3:75799350-75799605	GM12878	blood:	n/a	n/a
46	BATF	chr3:75733538-75733934	GM12878	blood:	n/a	chr3:75733714-75733723
47	BATF	chr3:75798934-75799129	GM12878	blood:	n/a	n/a
48	BATF	chr3:75801643-75802130	GM12878	blood:	n/a	n/a
49	BATF	chr3:75812381-75812837	GM12878	blood:	n/a	n/a
50	BATF	chr3:75799266-75799555	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr3:75804459..75806623-chr3:75811168..75814143,2	K562	blood:
2	chr3:75804459..75806623-chr3:75811168..75814143,2	K562	blood:
3	chr3:75790783..75791412-chr6:15280318..15280818,2	MCF-7	breast:
4	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: 8528 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:8528 , 50 per page) page: 1 2 3 4 5 6 7 ... 171

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376704795	chr3:75732862-75732863	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs372106956	chr3:75732868-75732869	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs367671635	chr3:75732869-75732870	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs372405638	chr3:75732871-75732872	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs79294297	chr3:75732884-75732885	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs375132074	chr3:75732908-75732909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs12495235	chr3:75732924-75732925	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs10451947	chr3:75732935-75732936	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs199942107	chr3:75732936-75732937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201039701	chr3:75732943-75732944	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs146028243	chr3:75732945-75732946	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs10451972	chr3:75732966-75732967	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs144961726	chr3:75732973-75732974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs143403013	chr3:75732974-75732975	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs189339120	chr3:75732986-75732987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75217453	chr3:75732998-75732999	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs73112931	chr3:75733002-75733003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs142561797	chr3:75733009-75733010	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs369819881	chr3:75733018-75733019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs369712424	chr3:75733026-75733027	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs73840384	chr3:75733037-75733038	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs149456018	chr3:75733053-75733054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs372500029	chr3:75733063-75733064	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs375081348	chr3:75733068-75733069	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs145045229	chr3:75733089-75733090	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112268966	chr3:75733102-75733103	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs71271623	chr3:75733104-75733105	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs146805760	chr3:75733110-75733111	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs62249257	chr3:75733113-75733114	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs112129781	chr3:75733114-75733115	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs200871553	chr3:75733123-75733124	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs62249258	chr3:75733131-75733132	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs143630063	chr3:75733142-75733143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200723717	chr3:75733166-75733167	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113979985	chr3:75733173-75733174	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs143574220	chr3:75733199-75733200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs139120209	chr3:75733204-75733205	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs62249259	chr3:75733215-75733216	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs143633344	chr3:75733219-75733220	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs201265225	chr3:75733220-75733221	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs202132326	chr3:75733221-75733222	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs200249430	chr3:75733223-75733224	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs78540747	chr3:75733248-75733249	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs112246227	chr3:75733256-75733257	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs71271624	chr3:75733278-75733279	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs201137834	chr3:75733290-75733291	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs199531601	chr3:75733293-75733294	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs150542107	chr3:75733294-75733295	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs62249960	chr3:75733351-75733352	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs199623533	chr3:75733368-75733369	Weak transcription ZNF genes & repeats Bivalent Enhancer	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:931 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

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	chr3:75727000-75736800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:75728200-75733200	Weak transcription	Pancreas	Pancrea
4	chr3:75728800-75733200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:75730600-75742200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:75732200-75733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:75732400-75734000	ZNF genes & repeats	Fetal Lung	lung
8	chr3:75733000-75737200	ZNF genes & repeats	Liver	Liver
9	chr3:75733200-75733400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:75733200-75733400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:75733200-75733400	Bivalent Enhancer	Lung	lung
12	chr3:75733200-75733400	ZNF genes & repeats	Pancreas	Pancrea
13	chr3:75733200-75733600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:75733200-75733600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:75733200-75733800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:75733200-75733800	ZNF genes & repeats	Left Ventricle	heart
17	chr3:75733200-75734200	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr3:75733200-75735000	ZNF genes & repeats	Aorta	Aorta
19	chr3:75733400-75733800	ZNF genes & repeats	Fetal Kidney	kidney
20	chr3:75733400-75734200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:75733600-75733800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr3:75733800-75736000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:75734200-75735200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:75734800-75737000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr3:75735000-75737200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr3:75735000-75738200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
27	chr3:75735200-75736600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:75735200-75750600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
29	chr3:75735600-75737200	ZNF genes & repeats	Fetal Lung	lung
30	chr3:75735800-75737000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
31	chr3:75735800-75738200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr3:75736000-75736200	ZNF genes & repeats	Brain Substantia Nigra	brain
33	chr3:75736000-75737000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:75736000-75737200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:75736000-75737200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr3:75736000-75737200	ZNF genes & repeats	Left Ventricle	heart
37	chr3:75736400-75737000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:75736400-75737000	ZNF genes & repeats	Fetal Stomach	stomach
39	chr3:75736400-75737200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:75736400-75737200	ZNF genes & repeats	Lung	lung
41	chr3:75736400-75737200	ZNF genes & repeats	Pancreas	Pancrea
42	chr3:75736600-75737000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:75736600-75737000	ZNF genes & repeats	Adipose Nuclei	Adipose
44	chr3:75736600-75737000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
45	chr3:75736600-75737000	ZNF genes & repeats	Brain Substantia Nigra	brain
46	chr3:75736600-75737000	ZNF genes & repeats	Colonic Mucosa	Colon
47	chr3:75736600-75737000	ZNF genes & repeats	A549	lung
48	chr3:75736600-75737000	ZNF genes & repeats	NHLF	lung
49	chr3:75736600-75737200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
50	chr3:75736600-75737200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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