Variant report

Variant	esv3434335
Chromosome Location	chr3:75756862-75795860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:940)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:940 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

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	ATF1	chr3:75759504-75760427	K562	blood:	n/a	n/a
3	ATF1	chr3:75760657-75761408	K562	blood:	n/a	n/a
4	ATF1	chr3:75779002-75782622	K562	blood:	n/a	n/a
5	ATF1	chr3:75771441-75772260	K562	blood:	n/a	n/a
6	ATF1	chr3:75783726-75784839	K562	blood:	n/a	n/a
7	ATF1	chr3:75769325-75769986	K562	blood:	n/a	n/a
8	ATF1	chr3:75773435-75776229	K562	blood:	n/a	n/a
9	ATF1	chr3:75787686-75789584	K562	blood:	n/a	n/a
10	ATF1	chr3:75777037-75777776	K562	blood:	n/a	n/a
11	ATF1	chr3:75789795-75794952	K562	blood:	n/a	n/a
12	ATF1	chr3:75763746-75764601	K562	blood:	n/a	n/a
13	ATF1	chr3:75762715-75762961	K562	blood:	n/a	n/a
14	ATF1	chr3:75765400-75768808	K562	blood:	n/a	n/a
15	ATF1	chr3:75785062-75787392	K562	blood:	n/a	n/a
16	ATF1	chr3:75761625-75762259	K562	blood:	n/a	n/a
17	ATF1	chr3:75778219-75778585	K562	blood:	n/a	n/a
18	ATF3	chr3:75788958-75789896	K562	blood:	n/a	n/a
19	BACH1	chr3:75787478-75787482	K562	blood:	n/a	n/a
20	BCL3	chr3:75768536-75768746	K562	blood:	n/a	n/a
21	BDP1	chr3:75793811-75794420	Hela-S3	cervix:	n/a	n/a
22	BDP1	chr3:75760903-75761397	Hela-S3	cervix:	n/a	n/a
23	BDP1	chr3:75786511-75788383	Hela-S3	cervix:	n/a	n/a
24	BDP1	chr3:75787581-75788623	K562	blood:	n/a	n/a
25	BDP1	chr3:75759163-75760279	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr3:75788868-75789166	GM12878	blood:	n/a	n/a
27	BRCA1	chr3:75781008-75781299	GM12878	blood:	n/a	n/a
28	BRCA1	chr3:75772739-75772915	H1-hESC	embryonic stem cell:	n/a	n/a
29	BRCA1	chr3:75765896-75765898	GM12878	blood:	n/a	n/a
30	BRCA1	chr3:75787454-75787585	GM12878	blood:	n/a	n/a
31	BRCA1	chr3:75773858-75774061	GM12878	blood:	n/a	n/a
32	BRCA1	chr3:75779149-75779672	GM12878	blood:	n/a	n/a
33	BRCA1	chr3:75785759-75786113	GM12878	blood:	n/a	n/a
34	BRCA1	chr3:75777662-75777763	GM12878	blood:	n/a	n/a
35	BRCA1	chr3:75784420-75785348	HepG2	liver:	n/a	n/a
36	BRCA1	chr3:75775671-75775917	GM12878	blood:	n/a	n/a
37	BRCA1	chr3:75786463-75787187	GM12878	blood:	n/a	n/a
38	BRCA1	chr3:75788955-75789432	HepG2	liver:	n/a	n/a
39	BRCA1	chr3:75784541-75784679	GM12878	blood:	n/a	n/a
40	BRCA1	chr3:75781631-75781860	GM12878	blood:	n/a	n/a
41	BRCA1	chr3:75794045-75794121	GM12878	blood:	n/a	n/a
42	BRF1	chr3:75759347-75760103	Hela-S3	cervix:	n/a	n/a
43	BRF1	chr3:75785410-75786404	Hela-S3	cervix:	n/a	n/a
44	CBX3	chr3:75786010-75787453	K562	blood:	n/a	n/a
45	CBX3	chr3:75785974-75787391	K562	blood:	n/a	n/a
46	CBX3	chr3:75787600-75788157	K562	blood:	n/a	n/a
47	CEBPB	chr3:75791680-75792312	HepG2	liver:	n/a	n/a
48	CEBPB	chr3:75791759-75792819	A549	lung:	n/a	chr3:75792585-75792598
49	CEBPB	chr3:75771469-75771734	HepG2	liver:	n/a	n/a
50	CEBPB	chr3:75770015-75770235	HepG2	liver:	n/a	chr3:75770097-75770108 chr3:75770098-75770109

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: 4403 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:4403 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113008426	chr3:75756871-75756872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374148578	chr3:75756874-75756875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200103391	chr3:75756878-75756879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370629197	chr3:75756886-75756887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112178832	chr3:75756887-75756888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111413988	chr3:75756910-75756911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62247300	chr3:75756915-75756916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370054977	chr3:75756921-75756922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142193358	chr3:75756942-75756943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111731974	chr3:75756967-75756968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201705295	chr3:75756976-75756977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113102375	chr3:75756995-75756996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145784866	chr3:75757021-75757022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539788721	chr3:75757035-75757036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557761176	chr3:75757036-75757037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572907648	chr3:75757042-75757043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533567455	chr3:75757045-75757046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371497841	chr3:75757055-75757056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188609670	chr3:75757065-75757066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138378651	chr3:75757087-75757088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149588928	chr3:75757100-75757101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144270556	chr3:75757101-75757102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112438620	chr3:75757122-75757123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141404905	chr3:75757141-75757142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150811209	chr3:75757142-75757143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150439424	chr3:75757148-75757149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112296097	chr3:75757172-75757173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200239377	chr3:75757178-75757179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201012780	chr3:75757190-75757191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202212877	chr3:75757208-75757209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575511391	chr3:75757245-75757246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111461185	chr3:75757251-75757252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142159042	chr3:75757253-75757254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111341236	chr3:75757269-75757270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546122957	chr3:75757308-75757309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs113540279	chr3:75757324-75757325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564458202	chr3:75757349-75757350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182311341	chr3:75757355-75757356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187434457	chr3:75757381-75757382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62247301	chr3:75757415-75757416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62247302	chr3:75757442-75757443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6793669	chr3:75757450-75757451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200644533	chr3:75757452-75757453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6768551	chr3:75757476-75757477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191091030	chr3:75757477-75757478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6808515	chr3:75757484-75757485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528443730	chr3:75757486-75757487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189676151	chr3:75757488-75757489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142161939	chr3:75757495-75757496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182380522	chr3:75757501-75757502	Weak 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	17122850	CNVD
Breast cancer	21858162	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:394 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75756200-75758800	Weak transcription	Fetal Kidney	kidney
2	chr3:75756400-75758600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:75756600-75758000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:75756800-75757800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:75757800-75759000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
6	chr3:75757800-75760000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr3:75757800-75760200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
8	chr3:75757800-75760800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr3:75757800-75794800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:75758000-75758600	ZNF genes & repeats	Ovary	ovary
11	chr3:75758000-75759200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:75758000-75760200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:75758400-75761800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr3:75758400-75762200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr3:75758600-75759800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:75758800-75759800	ZNF genes & repeats	Fetal Kidney	kidney
17	chr3:75758800-75760000	ZNF genes & repeats	Liver	Liver
18	chr3:75758800-75760000	ZNF genes & repeats	Fetal Lung	lung
19	chr3:75758800-75761400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr3:75759000-75760000	ZNF genes & repeats	NHDF-Ad	bronchial
21	chr3:75760800-75761400	Active TSS	Aorta	Aorta
22	chr3:75762400-75770800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr3:75762800-75763600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
24	chr3:75763000-75763600	ZNF genes & repeats	Ovary	ovary
25	chr3:75763200-75763600	ZNF genes & repeats	Pancreas	Pancrea
26	chr3:75763600-75765600	Weak transcription	Ovary	ovary
27	chr3:75763600-75766600	Weak transcription	Pancreas	Pancrea
28	chr3:75763800-75794800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr3:75764200-75771000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr3:75764800-75780200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
31	chr3:75765400-75768200	ZNF genes & repeats	Brain Hippocampus Middle	brain
32	chr3:75765400-75769800	ZNF genes & repeats	Liver	Liver
33	chr3:75765400-75770200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr3:75765400-75770400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:75765400-75811200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:75765600-75766000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
37	chr3:75765600-75767600	ZNF genes & repeats	Fetal Kidney	kidney
38	chr3:75765600-75768400	ZNF genes & repeats	Aorta	Aorta
39	chr3:75765600-75768800	ZNF genes & repeats	Fetal Heart	heart
40	chr3:75765600-75769000	ZNF genes & repeats	Ovary	ovary
41	chr3:75765600-75769600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr3:75765600-75769800	ZNF genes & repeats	Psoas Muscle	Psoas
43	chr3:75765800-75768000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr3:75765800-75768200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr3:75765800-75768600	ZNF genes & repeats	Primary T cells from cord blood	blood
46	chr3:75765800-75770000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr3:75766000-75766200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr3:75766000-75768800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
49	chr3:75766200-75768800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr3:75766200-75768800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet

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