Variant report

Variant	esv3381744
Chromosome Location	chr3:75399203-75422035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:123)
CpG islands
(count:796)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:123 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr3:75411520-75411813	GM12878	blood:	n/a	n/a
2	BATF	chr3:75411604-75411874	GM12878	blood:	n/a	n/a
3	BCL3	chr3:75417319-75417660	GM12878	blood:	n/a	n/a
4	BCL3	chr3:75416737-75417040	GM12878	blood:	n/a	n/a
5	BCL3	chr3:75407756-75407999	GM12878	blood:	n/a	n/a
6	BCL3	chr3:75417298-75417641	GM12878	blood:	n/a	n/a
7	CTCF	chr3:75411589-75411810	K562	blood:	n/a	n/a
8	CTCF	chr3:75411628-75411823	GM19240	blood:	n/a	n/a
9	CTCF	chr3:75411600-75411750	GM06990	blood:	n/a	n/a
10	CTCF	chr3:75411615-75411832	GM10266	blood:	n/a	n/a
11	CTCF	chr3:75411700-75411850	AG04450	lung:	n/a	n/a
12	CTCF	chr3:75411720-75411870	GM12871	blood:	n/a	n/a
13	CTCF	chr3:75411699-75411737	GM20000	blood:	n/a	n/a
14	CTCF	chr3:75411533-75411871	K562	blood:	n/a	n/a
15	CTCF	chr3:75411600-75411750	AG04450	lung:	n/a	n/a
16	CTCF	chr3:75411391-75411426	GM19238	blood:	n/a	n/a
17	CTCF	chr3:75411681-75411796	Fibrobl	skin:	n/a	n/a
18	CTCF	chr3:75411597-75411820	GM19238	blood:	n/a	n/a
19	CTCF	chr3:75411600-75411750	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr3:75411533-75411922	K562	blood:	n/a	n/a
21	CTCF	chr3:75411706-75411726	HepG2	liver:	n/a	n/a
22	CTCF	chr3:75411672-75411802	MCF-7	breast:	n/a	n/a
23	CTCF	chr3:75411363-75411443	GM12891	blood:	n/a	n/a
24	CTCF	chr3:75411700-75411850	NHEK	skin:	n/a	n/a
25	CTCF	chr3:75411720-75411870	HepG2	liver:	n/a	n/a
26	CTCF	chr3:75408562-75408653	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr3:75411628-75411813	GM10248	blood:	n/a	n/a
28	CTCF	chr3:75411600-75411750	GM12878	blood:	n/a	n/a
29	CTCF	chr3:75411595-75411875	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr3:75411580-75411790	GM12870	blood:	n/a	n/a
31	CTCF	chr3:75411651-75411822	MCF-7	breast:	n/a	n/a
32	CTCF	chr3:75411615-75411799	GM13977	blood:	n/a	n/a
33	CTCF	chr3:75411738-75411745	HepG2	liver:	n/a	n/a
34	CTCF	chr3:75411560-75411710	GM12873	blood:	n/a	n/a
35	CTCF	chr3:75411704-75411825	GM13976	blood:	n/a	n/a
36	CTCF	chr3:75411620-75411770	GM12865	blood:	n/a	n/a
37	CTCF	chr3:75411600-75411750	GM12873	blood:	n/a	n/a
38	CTCF	chr3:75411620-75411770	HMEC	breast:	n/a	n/a
39	CTCF	chr3:75411600-75411750	GM12865	blood:	n/a	n/a
40	CTCF	chr3:75411640-75411790	GM12866	blood:	n/a	n/a
41	CTCF	chr3:75411658-75411805	MCF-7	breast:	n/a	n/a
42	CTCF	chr3:75411766-75411780	Medullo	brain:	n/a	n/a
43	CTCF	chr3:75411650-75411793	Gliobla	brain:	n/a	n/a
44	CTCF	chr3:75411460-75411610	GM06990	blood:	n/a	n/a
45	CTCF	chr3:75411572-75411780	A549	lung:	n/a	n/a
46	CTCF	chr3:75411600-75411750	K562	blood:	n/a	n/a
47	CTCF	chr3:75411676-75411801	Spleen_OC	spleen:	n/a	n/a
48	CTCF	chr3:75411595-75411855	GM12892	blood:	n/a	n/a
49	CTCF	chr3:75411669-75411824	NHEK	skin:	n/a	n/a
50	CTCF	chr3:75411569-75411879	H1-hESC	embryonic stem cell:	n/a	n/a

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:75416171-75416221	BE2_C	brain:	n/a
2	chr3:75413083-75413133	SK-N-SH	brain:	n/a
3	chr3:75415526-75415576	PANC-1	pancreas:	n/a
4	chr3:75416171-75416221	BE2_C	brain:	n/a
5	chr3:75413083-75413133	SK-N-SH	brain:	n/a
6	chr3:75415526-75415576	PANC-1	pancreas:	n/a
7	chr3:75411038-75411088	AG04449	skin:	fetal
8	chr3:75414693-75414743	IMR90	lung:	fetal
9	chr3:75415526-75415576	HUVEC	blood vessel:	n/a
10	chr3:75415591-75415641	H1-hESC	embryonic stem cell:	embryo
11	chr3:75411217-75411267	ovcar-3	ovarian:	n/a
12	chr3:75411217-75411267	PrEC	prostate:	n/a
13	chr3:75414693-75414743	Hepatocyte	liver:	n/a
14	chr3:75412866-75412916	HNPCEpiC	eye:	n/a
15	chr3:75410789-75410839	HCT-116	colon:	n/a
16	chr3:75416171-75416221	Jurkat	blood:	n/a
17	chr3:75410747-75410797	AG09309	skin:	n/a
18	chr3:75415561-75415611	Hepatocyte	liver:	n/a
19	chr3:75415561-75415611	SAEC	small airway:	n/a
20	chr3:75416171-75416221	HCF	heart:	n/a
21	chr3:75413083-75413133	Hela-S3	cervix:	n/a
22	chr3:75412866-75412916	HMEC	breast:	n/a
23	chr3:75415526-75415576	ovcar-3	ovarian:	n/a
24	chr3:75411421-75411471	NT2-D1	testis:	n/a
25	chr3:75410747-75410797	NB4	blood:	n/a
26	chr3:75415561-75415611	GM12878	blood:	n/a
27	chr3:75412866-75412916	HEEpiC	esophagus:	n/a
28	chr3:75411038-75411088	AG09309	skin:	n/a
29	chr3:75413083-75413133	HCT-116	colon:	n/a
30	chr3:75416171-75416221	HEK293	kidney:	embryo
31	chr3:75410747-75410797	SKMC	muscle:	n/a
32	chr3:75410789-75410839	HAEpiC	amniotic membrane:	n/a
33	chr3:75410747-75410797	ovcar-3	ovarian:	n/a
34	chr3:75416171-75416221	SKMC	muscle:	n/a
35	chr3:75415591-75415641	HRE	kidney:	n/a
36	chr3:75414486-75414536	LNCaP	prostate:	n/a
37	chr3:75410747-75410797	GM12891	blood:	n/a
38	chr3:75411038-75411088	HL-60	blood:	n/a
39	chr3:75411217-75411267	BJ	skin:	n/a
40	chr3:75411038-75411088	HCPEpiC	choroid plexus:	n/a
41	chr3:75410747-75410797	NT2-D1	testis:	n/a
42	chr3:75415591-75415641	HEK293	kidney:	embryo
43	chr3:75411421-75411471	LNCaP	prostate:	n/a
44	chr3:75414486-75414536	AG10803	skin:	n/a
45	chr3:75415591-75415641	HUVEC	blood vessel:	n/a
46	chr3:75410789-75410839	MCF-7	breast:	n/a
47	chr3:75415526-75415576	A549	lung:	n/a
48	chr3:75415561-75415611	GM12892	blood:	n/a
49	chr3:75414693-75414743	GM12892	blood:	n/a
50	chr3:75413083-75413133	NHDF-neo	bronchial:	n/a

No data

Variant related genes	Relation type
OR7E66P	TF binding region
ENSG00000266685	TF binding region
OR7E55P	TF binding region
OR7E22P	TF binding region
ENSG00000263782	TF binding region
OR7E66P	CpG island
ENSG00000266685	CpG island
OR7E55P	CpG island
OR7E22P	CpG island
ENSG00000263782	CpG island

Extended variants
information (count: 550 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117484818	chr3:75399203-75399204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377525308	chr3:75399227-75399228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549786398	chr3:75399236-75399237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184114964	chr3:75399268-75399269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7613668	chr3:75399287-75399288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548063091	chr3:75399300-75399301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554182691	chr3:75399309-75399310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201713402	chr3:75399338-75399339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386662437	chr3:75399360-75399361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117226777	chr3:75399362-75399363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569786662	chr3:75399363-75399364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112945848	chr3:75399369-75399370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114315816	chr3:75399370-75399371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72499091	chr3:75399390-75399391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79425892	chr3:75399397-75399398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553210591	chr3:75399417-75399418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536518115	chr3:75399418-75399419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542023098	chr3:75399429-75399430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563115953	chr3:75399454-75399455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576133055	chr3:75399502-75399503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189239417	chr3:75399553-75399554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564979058	chr3:75399620-75399621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs56780837	chr3:75399624-75399625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144640520	chr3:75399627-75399628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371247974	chr3:75399628-75399629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574016240	chr3:75399637-75399638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145056219	chr3:75399661-75399662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530299499	chr3:75399673-75399674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs13099103	chr3:75399674-75399675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181597300	chr3:75399692-75399693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs186451485	chr3:75399749-75399750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558207924	chr3:75399750-75399751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192129516	chr3:75399751-75399752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375832967	chr3:75399762-75399763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570380759	chr3:75399763-75399764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs71627416	chr3:75399769-75399770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534594727	chr3:75399809-75399810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552659555	chr3:75399812-75399813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs180923372	chr3:75399818-75399819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs185968874	chr3:75399971-75399972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556747987	chr3:75400020-75400021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151208235	chr3:75400034-75400035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543558912	chr3:75400099-75400100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs543823869	chr3:75400140-75400141	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs565018358	chr3:75400171-75400172	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs577205919	chr3:75400279-75400280	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs11929508	chr3:75400304-75400305	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs190694062	chr3:75400346-75400347	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs145374980	chr3:75400347-75400348	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs137874111	chr3:75400348-75400349	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:75391000-75400600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:75399400-75400800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:75400600-75400800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:75400800-75401800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:75403200-75403600	Enhancers	Stomach Mucosa	stomach
6	chr3:75411000-75411400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr3:75411000-75412000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr3:75411000-75412200	Enhancers	Pancreas	Pancrea
9	chr3:75411000-75413400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:75411200-75411600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:75411200-75411600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr3:75411600-75412400	Enhancers	Placenta	Placenta
13	chr3:75411600-75412800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:75411800-75412200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr3:75412000-75413400	Enhancers	Stomach Mucosa	stomach
16	chr3:75413000-75413200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:75420200-75421800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:75421400-75423000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:75421800-75422600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:75422000-75422200	Flanking Active TSS	Osteobl	bone
21	chr3:75422000-75422400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr3:75422000-75422400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:75422000-75423000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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