Variant report

Variant	nsv1008600
Chromosome Location	chr3:75733782-75806366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1963)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1963 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:75739156-75739286	K562	blood:	n/a	n/a
2	ARID3A	chr3:75754843-75755270	K562	blood:	n/a	n/a
3	ARID3A	chr3:75770122-75770154	HepG2	liver:	n/a	n/a
4	ARID3A	chr3:75736701-75737480	K562	blood:	n/a	n/a
5	ATF1	chr3:75785062-75787392	K562	blood:	n/a	n/a
6	ATF1	chr3:75765400-75768808	K562	blood:	n/a	n/a
7	ATF1	chr3:75778219-75778585	K562	blood:	n/a	n/a
8	ATF1	chr3:75736867-75738707	K562	blood:	n/a	n/a
9	ATF1	chr3:75746545-75746765	K562	blood:	n/a	n/a
10	ATF1	chr3:75754856-75755222	K562	blood:	n/a	n/a
11	ATF1	chr3:75745544-75745744	K562	blood:	n/a	n/a
12	ATF1	chr3:75759504-75760427	K562	blood:	n/a	n/a
13	ATF1	chr3:75773435-75776229	K562	blood:	n/a	n/a
14	ATF1	chr3:75735197-75735394	K562	blood:	n/a	n/a
15	ATF1	chr3:75787686-75789584	K562	blood:	n/a	n/a
16	ATF1	chr3:75789795-75794952	K562	blood:	n/a	n/a
17	ATF1	chr3:75743644-75744222	K562	blood:	n/a	n/a
18	ATF1	chr3:75763746-75764601	K562	blood:	n/a	n/a
19	ATF1	chr3:75735948-75736287	K562	blood:	n/a	n/a
20	ATF1	chr3:75747229-75747380	K562	blood:	n/a	n/a
21	ATF1	chr3:75762715-75762961	K562	blood:	n/a	n/a
22	ATF1	chr3:75771441-75772260	K562	blood:	n/a	n/a
23	ATF1	chr3:75733400-75734148	K562	blood:	n/a	n/a
24	ATF1	chr3:75769325-75769986	K562	blood:	n/a	n/a
25	ATF1	chr3:75740338-75740804	K562	blood:	n/a	n/a
26	ATF1	chr3:75755512-75756182	K562	blood:	n/a	n/a
27	ATF1	chr3:75734703-75734852	K562	blood:	n/a	n/a
28	ATF1	chr3:75761625-75762259	K562	blood:	n/a	n/a
29	ATF1	chr3:75760657-75761408	K562	blood:	n/a	n/a
30	ATF1	chr3:75777037-75777776	K562	blood:	n/a	n/a
31	ATF1	chr3:75750030-75750205	K562	blood:	n/a	n/a
32	ATF1	chr3:75779002-75782622	K562	blood:	n/a	n/a
33	ATF1	chr3:75783726-75784839	K562	blood:	n/a	n/a
34	ATF3	chr3:75788958-75789896	K562	blood:	n/a	n/a
35	BACH1	chr3:75787478-75787482	K562	blood:	n/a	n/a
36	BACH1	chr3:75740483-75740494	K562	blood:	n/a	n/a
37	BACH1	chr3:75739253-75739499	K562	blood:	n/a	n/a
38	BACH1	chr3:75735200-75735345	K562	blood:	n/a	n/a
39	BACH1	chr3:75736972-75737792	K562	blood:	n/a	n/a
40	BACH1	chr3:75744812-75745060	K562	blood:	n/a	n/a
41	BACH1	chr3:75734445-75734852	K562	blood:	n/a	n/a
42	BATF	chr3:75799350-75799605	GM12878	blood:	n/a	n/a
43	BATF	chr3:75799266-75799555	GM12878	blood:	n/a	n/a
44	BATF	chr3:75798934-75799129	GM12878	blood:	n/a	n/a
45	BATF	chr3:75804084-75804405	GM12878	blood:	n/a	n/a
46	BATF	chr3:75733538-75733934	GM12878	blood:	n/a	chr3:75733714-75733723
47	BATF	chr3:75802230-75802905	GM12878	blood:	n/a	n/a
48	BATF	chr3:75801643-75802130	GM12878	blood:	n/a	n/a
49	BCL11A	chr3:75801736-75802185	GM12878	blood:	n/a	n/a
50	BCL11A	chr3:75798905-75799142	GM12878	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:56709052..56711813-chr3:75770362..75772517,2	MCF-7	breast:
2	chr3:75804459..75806623-chr3:75811168..75814143,2	K562	blood:
3	chr3:75790783..75791412-chr6:15280318..15280818,2	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: 7848 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:7848 , 50 per page) page: 1 2 3 4 5 6 7 ... 157

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200324357	chr3:75733789-75733790	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201593688	chr3:75733790-75733791	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199703695	chr3:75733801-75733802	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76621469	chr3:75733819-75733820	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73840385	chr3:75733821-75733822	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs78653575	chr3:75733825-75733826	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375788996	chr3:75733862-75733863	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80300027	chr3:75733867-75733868	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200584219	chr3:75733877-75733878	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78852920	chr3:75733900-75733901	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369094959	chr3:75733901-75733902	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78644348	chr3:75733910-75733911	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373330203	chr3:75733927-75733928	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377036607	chr3:75733929-75733930	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201970741	chr3:75733951-75733952	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79670511	chr3:75733952-75733953	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373500124	chr3:75733963-75733964	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201016748	chr3:75733964-75733965	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201328710	chr3:75733967-75733968	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77609046	chr3:75733980-75733981	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201223600	chr3:75733981-75733982	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202121632	chr3:75733988-75733989	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79865226	chr3:75734011-75734012	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201448048	chr3:75734015-75734016	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73840386	chr3:75734018-75734019	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377532032	chr3:75734039-75734040	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140476690	chr3:75734041-75734042	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73112934	chr3:75734042-75734043	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370991243	chr3:75734050-75734051	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139076844	chr3:75734052-75734053	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375675719	chr3:75734053-75734054	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377645973	chr3:75734055-75734056	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145192711	chr3:75734062-75734063	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149121046	chr3:75734077-75734078	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115294541	chr3:75734088-75734089	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199583969	chr3:75734091-75734092	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200697437	chr3:75734092-75734093	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148240222	chr3:75734094-75734095	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149687024	chr3:75734097-75734098	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370788785	chr3:75734104-75734105	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138901201	chr3:75734126-75734127	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111451586	chr3:75734132-75734133	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201669106	chr3:75734148-75734149	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148078677	chr3:75734150-75734151	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140304730	chr3:75734195-75734196	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201852942	chr3:75734196-75734197	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375950294	chr3:75734201-75734202	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs142637617	chr3:75734204-75734205	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs199807436	chr3:75734209-75734210	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4079679	chr3:75734224-75734225	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:789 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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	chr3:75730600-75742200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:75732400-75734000	ZNF genes & repeats	Fetal Lung	lung
5	chr3:75733000-75737200	ZNF genes & repeats	Liver	Liver
6	chr3:75733200-75733800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:75733200-75733800	ZNF genes & repeats	Left Ventricle	heart
8	chr3:75733200-75734200	ZNF genes & repeats	Primary T cells from cord blood	blood
9	chr3:75733200-75735000	ZNF genes & repeats	Aorta	Aorta
10	chr3:75733400-75733800	ZNF genes & repeats	Fetal Kidney	kidney
11	chr3:75733400-75734200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:75733600-75733800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr3:75733800-75736000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:75734200-75735200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:75734800-75737000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:75735000-75737200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
17	chr3:75735000-75738200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr3:75735200-75736600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:75735200-75750600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr3:75735600-75737200	ZNF genes & repeats	Fetal Lung	lung
21	chr3:75735800-75737000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
22	chr3:75735800-75738200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr3:75736000-75736200	ZNF genes & repeats	Brain Substantia Nigra	brain
24	chr3:75736000-75737000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:75736000-75737200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:75736000-75737200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr3:75736000-75737200	ZNF genes & repeats	Left Ventricle	heart
28	chr3:75736400-75737000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:75736400-75737000	ZNF genes & repeats	Fetal Stomach	stomach
30	chr3:75736400-75737200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:75736400-75737200	ZNF genes & repeats	Lung	lung
32	chr3:75736400-75737200	ZNF genes & repeats	Pancreas	Pancrea
33	chr3:75736600-75737000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr3:75736600-75737000	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr3:75736600-75737000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:75736600-75737000	ZNF genes & repeats	Brain Substantia Nigra	brain
37	chr3:75736600-75737000	ZNF genes & repeats	Colonic Mucosa	Colon
38	chr3:75736600-75737000	ZNF genes & repeats	A549	lung
39	chr3:75736600-75737000	ZNF genes & repeats	NHLF	lung
40	chr3:75736600-75737200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr3:75736600-75737200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:75736600-75737200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chr3:75736600-75737200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr3:75736600-75737200	ZNF genes & repeats	Aorta	Aorta
45	chr3:75736600-75737200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
46	chr3:75736600-75737200	ZNF genes & repeats	Gastric	stomach
47	chr3:75736600-75737400	ZNF genes & repeats	NHEK	skin
48	chr3:75736800-75737000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
49	chr3:75736800-75737000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr3:75736800-75737000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood

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