Variant report

Variant	nsv1001383
Chromosome Location	chr3:75747371-75794567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1118)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:1118 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

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	ATF1	chr3:75747229-75747380	K562	blood:	n/a	n/a
4	ATF1	chr3:75762715-75762961	K562	blood:	n/a	n/a
5	ATF1	chr3:75777037-75777776	K562	blood:	n/a	n/a
6	ATF1	chr3:75773435-75776229	K562	blood:	n/a	n/a
7	ATF1	chr3:75760657-75761408	K562	blood:	n/a	n/a
8	ATF1	chr3:75787686-75789584	K562	blood:	n/a	n/a
9	ATF1	chr3:75761625-75762259	K562	blood:	n/a	n/a
10	ATF1	chr3:75759504-75760427	K562	blood:	n/a	n/a
11	ATF1	chr3:75769325-75769986	K562	blood:	n/a	n/a
12	ATF1	chr3:75754856-75755222	K562	blood:	n/a	n/a
13	ATF1	chr3:75785062-75787392	K562	blood:	n/a	n/a
14	ATF1	chr3:75755512-75756182	K562	blood:	n/a	n/a
15	ATF1	chr3:75783726-75784839	K562	blood:	n/a	n/a
16	ATF1	chr3:75750030-75750205	K562	blood:	n/a	n/a
17	ATF1	chr3:75763746-75764601	K562	blood:	n/a	n/a
18	ATF1	chr3:75771441-75772260	K562	blood:	n/a	n/a
19	ATF1	chr3:75765400-75768808	K562	blood:	n/a	n/a
20	ATF1	chr3:75789795-75794952	K562	blood:	n/a	n/a
21	ATF1	chr3:75779002-75782622	K562	blood:	n/a	n/a
22	ATF1	chr3:75778219-75778585	K562	blood:	n/a	n/a
23	ATF3	chr3:75788958-75789896	K562	blood:	n/a	n/a
24	BACH1	chr3:75787478-75787482	K562	blood:	n/a	n/a
25	BCL3	chr3:75768536-75768746	K562	blood:	n/a	n/a
26	BDP1	chr3:75759163-75760279	Hela-S3	cervix:	n/a	n/a
27	BDP1	chr3:75787581-75788623	K562	blood:	n/a	n/a
28	BDP1	chr3:75786511-75788383	Hela-S3	cervix:	n/a	n/a
29	BDP1	chr3:75793811-75794420	Hela-S3	cervix:	n/a	n/a
30	BDP1	chr3:75755278-75756197	Hela-S3	cervix:	n/a	n/a
31	BDP1	chr3:75760903-75761397	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr3:75754134-75754144	GM12878	blood:	n/a	n/a
33	BRCA1	chr3:75748758-75748876	GM12878	blood:	n/a	n/a
34	BRCA1	chr3:75784420-75785348	HepG2	liver:	n/a	n/a
35	BRCA1	chr3:75747691-75747699	GM12878	blood:	n/a	n/a
36	BRCA1	chr3:75777662-75777763	GM12878	blood:	n/a	n/a
37	BRCA1	chr3:75773858-75774061	GM12878	blood:	n/a	n/a
38	BRCA1	chr3:75754857-75755058	GM12878	blood:	n/a	n/a
39	BRCA1	chr3:75785759-75786113	GM12878	blood:	n/a	n/a
40	BRCA1	chr3:75794045-75794121	GM12878	blood:	n/a	n/a
41	BRCA1	chr3:75751102-75751210	GM12878	blood:	n/a	n/a
42	BRCA1	chr3:75775671-75775917	GM12878	blood:	n/a	n/a
43	BRCA1	chr3:75748913-75749113	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr3:75779149-75779672	GM12878	blood:	n/a	n/a
45	BRCA1	chr3:75772739-75772915	H1-hESC	embryonic stem cell:	n/a	n/a
46	BRCA1	chr3:75781631-75781860	GM12878	blood:	n/a	n/a
47	BRCA1	chr3:75788955-75789432	HepG2	liver:	n/a	n/a
48	BRCA1	chr3:75786463-75787187	GM12878	blood:	n/a	n/a
49	BRCA1	chr3:75788868-75789166	GM12878	blood:	n/a	n/a
50	BRCA1	chr3:75765896-75765898	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: 5263 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:5263 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554248531	chr3:75747376-75747377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79742846	chr3:75747391-75747392	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs144937329	chr3:75747393-75747394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs146103801	chr3:75747394-75747395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75606465	chr3:75747400-75747401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs372525501	chr3:75747407-75747408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs7340712	chr3:75747413-75747414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75491783	chr3:75747427-75747428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572571905	chr3:75747430-75747431	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs139369694	chr3:75747433-75747434	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs146798518	chr3:75747434-75747435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs113615609	chr3:75747439-75747440	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs148921145	chr3:75747441-75747442	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs140932044	chr3:75747465-75747466	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs561123433	chr3:75747466-75747467	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs369414763	chr3:75747474-75747475	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs556339145	chr3:75747475-75747476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs188249844	chr3:75747485-75747486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs62246501	chr3:75747521-75747522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs201098154	chr3:75747540-75747541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs74691648	chr3:75747542-75747543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs374526858	chr3:75747552-75747553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs140851614	chr3:75747553-75747554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs76487177	chr3:75747562-75747563	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs74590790	chr3:75747579-75747580	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs200349970	chr3:75747598-75747599	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs73841508	chr3:75747604-75747605	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs367689611	chr3:75747630-75747631	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs150377111	chr3:75747635-75747636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs79923074	chr3:75747647-75747648	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs146948659	chr3:75747648-75747649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs79462228	chr3:75747653-75747654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs79578146	chr3:75747671-75747672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs199655354	chr3:75747672-75747673	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113203967	chr3:75747674-75747675	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs188469920	chr3:75747683-75747684	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs149445277	chr3:75747684-75747685	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs181357745	chr3:75747711-75747712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs144846501	chr3:75747713-75747714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs148584050	chr3:75747714-75747715	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs141972234	chr3:75747715-75747716	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78099590	chr3:75747726-75747727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs146115557	chr3:75747727-75747728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs142342590	chr3:75747744-75747745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs546976513	chr3:75747754-75747755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78290640	chr3:75747763-75747764	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529773998	chr3:75747766-75747767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs147261784	chr3:75747776-75747777	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs146802380	chr3:75747781-75747782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73841509	chr3:75747793-75747794	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:452 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75735200-75750600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr3:75740000-75747600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr3:75740200-75750400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:75743600-75752800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:75746400-75748200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
6	chr3:75746600-75748200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr3:75746600-75750600	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr3:75746800-75748200	ZNF genes & repeats	Brain Anterior Caudate	brain
9	chr3:75746800-75749200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr3:75747000-75748000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
11	chr3:75747000-75749000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr3:75747200-75748400	ZNF genes & repeats	Brain Hippocampus Middle	brain
13	chr3:75747200-75748800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr3:75747400-75747800	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
15	chr3:75747400-75748200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
16	chr3:75747400-75748200	ZNF genes & repeats	Thymus	Thymus
17	chr3:75747400-75748400	ZNF genes & repeats	Brain Germinal Matrix	brain
18	chr3:75747400-75748400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
19	chr3:75747600-75748200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:75747600-75748200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:75747600-75748200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:75747600-75748200	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr3:75747600-75748200	ZNF genes & repeats	Aorta	Aorta
24	chr3:75747600-75748200	ZNF genes & repeats	Gastric	stomach
25	chr3:75747600-75748200	ZNF genes & repeats	Lung	lung
26	chr3:75747800-75748200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:75748000-75748800	ZNF genes & repeats	Pancreas	Pancrea
28	chr3:75749800-75750400	ZNF genes & repeats	Colon Smooth Muscle	Colon
29	chr3:75749800-75750600	ZNF genes & repeats	Aorta	Aorta
30	chr3:75751200-75751400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr3:75753600-75756800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr3:75754200-75756400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:75754200-75756400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
34	chr3:75754600-75756400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
35	chr3:75754800-75756000	ZNF genes & repeats	Primary T cells from cord blood	blood
36	chr3:75754800-75756400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
37	chr3:75754800-75756400	ZNF genes & repeats	Fetal Brain Male	brain
38	chr3:75754800-75756800	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr3:75755000-75756200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr3:75755000-75756200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr3:75755000-75756600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
42	chr3:75755200-75756600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:75755400-75755800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
44	chr3:75755400-75756200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr3:75755400-75756200	ZNF genes & repeats	Fetal Lung	lung
46	chr3:75755400-75756200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
47	chr3:75755400-75756400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
48	chr3:75755400-75756400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
49	chr3:75755400-75756600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr3:75755400-75756800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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