Variant report

Variant	esv2436311
Chromosome Location	chr3:75728087-75793788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1805)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1805 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

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	chr3:75754843-75755270	K562	blood:	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	chr3:75765400-75768808	K562	blood:	n/a	n/a
6	ATF1	chr3:75750030-75750205	K562	blood:	n/a	n/a
7	ATF1	chr3:75740338-75740804	K562	blood:	n/a	n/a
8	ATF1	chr3:75763746-75764601	K562	blood:	n/a	n/a
9	ATF1	chr3:75787686-75789584	K562	blood:	n/a	n/a
10	ATF1	chr3:75735197-75735394	K562	blood:	n/a	n/a
11	ATF1	chr3:75760657-75761408	K562	blood:	n/a	n/a
12	ATF1	chr3:75745544-75745744	K562	blood:	n/a	n/a
13	ATF1	chr3:75759504-75760427	K562	blood:	n/a	n/a
14	ATF1	chr3:75777037-75777776	K562	blood:	n/a	n/a
15	ATF1	chr3:75755512-75756182	K562	blood:	n/a	n/a
16	ATF1	chr3:75783726-75784839	K562	blood:	n/a	n/a
17	ATF1	chr3:75730688-75730845	K562	blood:	n/a	n/a
18	ATF1	chr3:75734703-75734852	K562	blood:	n/a	n/a
19	ATF1	chr3:75778219-75778585	K562	blood:	n/a	n/a
20	ATF1	chr3:75769325-75769986	K562	blood:	n/a	n/a
21	ATF1	chr3:75733400-75734148	K562	blood:	n/a	n/a
22	ATF1	chr3:75747229-75747380	K562	blood:	n/a	n/a
23	ATF1	chr3:75743644-75744222	K562	blood:	n/a	n/a
24	ATF1	chr3:75746545-75746765	K562	blood:	n/a	n/a
25	ATF1	chr3:75779002-75782622	K562	blood:	n/a	n/a
26	ATF1	chr3:75771441-75772260	K562	blood:	n/a	n/a
27	ATF1	chr3:75728521-75728535	K562	blood:	n/a	n/a
28	ATF1	chr3:75761625-75762259	K562	blood:	n/a	n/a
29	ATF1	chr3:75735948-75736287	K562	blood:	n/a	n/a
30	ATF1	chr3:75736867-75738707	K562	blood:	n/a	n/a
31	ATF1	chr3:75728107-75728162	K562	blood:	n/a	n/a
32	ATF1	chr3:75789795-75794952	K562	blood:	n/a	n/a
33	ATF1	chr3:75754856-75755222	K562	blood:	n/a	n/a
34	ATF1	chr3:75762715-75762961	K562	blood:	n/a	n/a
35	ATF1	chr3:75785062-75787392	K562	blood:	n/a	n/a
36	ATF1	chr3:75773435-75776229	K562	blood:	n/a	n/a
37	ATF3	chr3:75788958-75789896	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	chr3:75736972-75737792	K562	blood:	n/a	n/a
41	BACH1	chr3:75744812-75745060	K562	blood:	n/a	n/a
42	BACH1	chr3:75740483-75740494	K562	blood:	n/a	n/a
43	BACH1	chr3:75734445-75734852	K562	blood:	n/a	n/a
44	BACH1	chr3:75739253-75739499	K562	blood:	n/a	n/a
45	BATF	chr3:75733538-75733934	GM12878	blood:	n/a	chr3:75733714-75733723
46	BCL11A	chr3:75730792-75731137	GM12878	blood:	n/a	n/a
47	BCL3	chr3:75768536-75768746	K562	blood:	n/a	n/a
48	BDP1	chr3:75738238-75739465	Hela-S3	cervix:	n/a	n/a
49	BDP1	chr3:75734443-75735676	Hela-S3	cervix:	n/a	n/a
50	BDP1	chr3:75740264-75741168	Hela-S3	cervix:	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: 7231 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:7231 , 50 per page) page: 1 2 3 4 5 6 7 ... 145

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115313468	chr3:75728087-75728088	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115687587	chr3:75728128-75728129	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142986557	chr3:75728132-75728133	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1055731	chr3:75728144-75728145	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs115232444	chr3:75728148-75728149	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115812783	chr3:75728153-75728154	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79140366	chr3:75728159-75728160	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369395490	chr3:75728179-75728180	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75029918	chr3:75728181-75728182	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74703799	chr3:75728222-75728223	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77428210	chr3:75728225-75728226	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112482843	chr3:75728229-75728230	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369918722	chr3:75728235-75728236	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62249201	chr3:75728250-75728251	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74768757	chr3:75728257-75728258	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62249202	chr3:75728265-75728266	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76433728	chr3:75728316-75728317	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76522447	chr3:75728321-75728322	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62249203	chr3:75728339-75728340	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111876210	chr3:75728342-75728343	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62249204	chr3:75728371-75728372	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374437574	chr3:75728411-75728412	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78617360	chr3:75728420-75728421	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201358661	chr3:75728428-75728429	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78980238	chr3:75728472-75728473	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75422625	chr3:75728488-75728489	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80035441	chr3:75728499-75728500	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79469826	chr3:75728517-75728518	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78716531	chr3:75728532-75728533	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76721935	chr3:75728546-75728547	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199614733	chr3:75728591-75728592	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73112919	chr3:75728600-75728601	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201493027	chr3:75728608-75728609	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62249205	chr3:75728635-75728636	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62249206	chr3:75728641-75728642	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62249207	chr3:75728661-75728662	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62249208	chr3:75728693-75728694	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74446186	chr3:75728718-75728719	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77949487	chr3:75728724-75728725	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200029786	chr3:75728745-75728746	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116909584	chr3:75728746-75728747	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78573978	chr3:75728747-75728748	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77789003	chr3:75728792-75728793	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11708429	chr3:75728802-75728803	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs137871913	chr3:75728827-75728828	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112231863	chr3:75728840-75728841	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200460948	chr3:75728866-75728867	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74281626	chr3:75728869-75728870	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200198099	chr3:75728878-75728879	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75037251	chr3:75728893-75728894	Weak transcription ZNF genes & repeats Strong transcription	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	22522925	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	chr3:75723600-75729600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr3:75726800-75729600	ZNF genes & repeats	Fetal Lung	lung
4	chr3:75727000-75728400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:75727000-75736800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:75727400-75730400	Weak transcription	NHDF-Ad	bronchial
7	chr3:75727400-75730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:75727800-75728800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:75727800-75729200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
10	chr3:75728000-75728200	ZNF genes & repeats	Pancreas	Pancrea
11	chr3:75728000-75728400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:75728000-75728400	ZNF genes & repeats	NH-A	brain
13	chr3:75728000-75728800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:75728200-75729000	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr3:75728200-75731200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr3:75728200-75733200	Weak transcription	Pancreas	Pancrea
17	chr3:75728400-75729200	Strong transcription	NH-A	brain
18	chr3:75728400-75729400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:75728600-75729600	ZNF genes & repeats	Fetal Kidney	kidney
20	chr3:75728800-75733200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:75729200-75730800	Weak transcription	NH-A	brain
22	chr3:75730400-75731600	ZNF genes & repeats	NHDF-Ad	bronchial
23	chr3:75730600-75730800	ZNF genes & repeats	Aorta	Aorta
24	chr3:75730600-75731000	ZNF genes & repeats	Adipose Nuclei	Adipose
25	chr3:75730600-75731000	ZNF genes & repeats	Psoas Muscle	Psoas
26	chr3:75730600-75731400	ZNF genes & repeats	Liver	Liver
27	chr3:75730600-75742200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:75732200-75733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:75732400-75734000	ZNF genes & repeats	Fetal Lung	lung
30	chr3:75733000-75737200	ZNF genes & repeats	Liver	Liver
31	chr3:75733200-75733400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:75733200-75733400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:75733200-75733400	Bivalent Enhancer	Lung	lung
34	chr3:75733200-75733400	ZNF genes & repeats	Pancreas	Pancrea
35	chr3:75733200-75733600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:75733200-75733600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:75733200-75733800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:75733200-75733800	ZNF genes & repeats	Left Ventricle	heart
39	chr3:75733200-75734200	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr3:75733200-75735000	ZNF genes & repeats	Aorta	Aorta
41	chr3:75733400-75733800	ZNF genes & repeats	Fetal Kidney	kidney
42	chr3:75733400-75734200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:75733600-75733800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr3:75733800-75736000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:75734200-75735200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:75734800-75737000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr3:75735000-75737200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr3:75735000-75738200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr3:75735200-75736600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:75735200-75750600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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