Variant report

Variant	esv3417427
Chromosome Location	chr8:107572825-107590283
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:263)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:107589916-107590083	HepG2	liver:	n/a	n/a
2	BHLHE40	chr8:107589992-107590192	GM12878	blood:	n/a	n/a
3	CBX3	chr8:107589807-107590350	HCT-116	colon:	n/a	n/a
4	CBX3	chr8:107589844-107590187	K562	blood:	n/a	n/a
5	CEBPB	chr8:107586525-107586853	K562	blood:	n/a	n/a
6	CEBPB	chr8:107589958-107590163	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr8:107590044-107590113	HepG2	liver:	n/a	n/a
8	CHD2	chr8:107589934-107590183	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr8:107589964-107590010	HepG2	liver:	n/a	n/a
10	CREB1	chr8:107589800-107590182	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr8:107589940-107590090	SAEC	small airway:	n/a	n/a
12	CTCF	chr8:107590000-107590150	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr8:107589861-107590188	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr8:107589895-107590105	GM10266	blood:	n/a	n/a
15	CTCF	chr8:107589940-107590090	GM12875	blood:	n/a	n/a
16	CTCF	chr8:107589910-107590121	LNCaP	prostate:	n/a	n/a
17	CTCF	chr8:107589920-107590070	HAc	cerebellar:	n/a	n/a
18	CTCF	chr8:107589960-107590110	GM12875	blood:	n/a	n/a
19	CTCF	chr8:107589920-107590070	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr8:107589902-107590134	GM19239	blood:	n/a	n/a
21	CTCF	chr8:107589920-107590070	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr8:107590020-107590170	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr8:107589940-107590090	NHEK	skin:	n/a	n/a
24	CTCF	chr8:107589920-107590070	BJ	skin:	n/a	n/a
25	CTCF	chr8:107589938-107590065	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr8:107589900-107590050	GM12870	blood:	n/a	n/a
27	CTCF	chr8:107589837-107590163	MCF-7	breast:	n/a	n/a
28	CTCF	chr8:107589799-107590200	K562	blood:	n/a	n/a
29	CTCF	chr8:107589920-107590070	HPF	lung:	n/a	n/a
30	CTCF	chr8:107589908-107590123	Pancreas_OC	pancreas:	n/a	n/a
31	CTCF	chr8:107589940-107590090	HMEC	breast:	n/a	n/a
32	CTCF	chr8:107589846-107590158	MCF-7	breast:	n/a	n/a
33	CTCF	chr8:107589906-107590136	Spleen_OC	spleen:	n/a	n/a
34	CTCF	chr8:107589960-107590110	GM12872	blood:	n/a	n/a
35	CTCF	chr8:107573838-107573920	GM13976	blood:	n/a	n/a
36	CTCF	chr8:107589912-107590100	GM10248	blood:	n/a	n/a
37	CTCF	chr8:107589920-107590070	K562	blood:	n/a	n/a
38	CTCF	chr8:107589797-107590283	MCF-7	breast:	n/a	n/a
39	CTCF	chr8:107589887-107590136	GM13977	blood:	n/a	n/a
40	CTCF	chr8:107589920-107590070	AG09319	gingival:	n/a	n/a
41	CTCF	chr8:107589780-107589930	HAc	cerebellar:	n/a	n/a
42	CTCF	chr8:107589920-107590070	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr8:107589940-107590090	HVMF	connective:	n/a	n/a
44	CTCF	chr8:107589850-107590363	A549	lung:	n/a	n/a
45	CTCF	chr8:107589875-107590149	GM12892	blood:	n/a	n/a
46	CTCF	chr8:107589851-107590162	A549	lung:	n/a	n/a
47	CTCF	chr8:107589906-107590120	LNCaP	prostate:	n/a	n/a
48	CTCF	chr8:107589920-107590070	MCF-7	breast:	n/a	n/a
49	CTCF	chr8:107589900-107590170	WI-38	lung:	n/a	n/a
50	CTCF	chr8:107589861-107590178	GM19238	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:107589621..107590429-chr8:107603675..107604668,5	MCF-7	breast:
2	chr8:107571652..107574385-chr8:107575175..107578014,2	K562	blood:
3	chr8:107571652..107574385-chr8:107575175..107578014,2	K562	blood:

No data

Variant related genes	Relation type
OXR1	TF binding region

Extended variants
information (count: 639 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:639 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566004850	chr8:107572829-107572830	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs116440851	chr8:107572917-107572918	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540429963	chr8:107572955-107572956	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183125355	chr8:107572961-107572962	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1823799	chr8:107572967-107572968	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs201348813	chr8:107572993-107572994	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543126195	chr8:107572996-107572997	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529187764	chr8:107573007-107573008	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370480275	chr8:107573008-107573009	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142630337	chr8:107573009-107573010	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139770470	chr8:107573034-107573035	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573278354	chr8:107573037-107573038	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149785457	chr8:107573046-107573047	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567765770	chr8:107573081-107573082	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527994036	chr8:107573118-107573119	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35152552	chr8:107573188-107573189	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549037322	chr8:107573192-107573193	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199636684	chr8:107573193-107573194	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564720932	chr8:107573213-107573214	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565071697	chr8:107573214-107573215	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542750808	chr8:107573273-107573274	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186178103	chr8:107573279-107573280	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368070029	chr8:107573282-107573283	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529298126	chr8:107573286-107573287	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547856587	chr8:107573305-107573306	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146488560	chr8:107573317-107573318	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563037920	chr8:107573371-107573372	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190499662	chr8:107573379-107573380	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537914106	chr8:107573418-107573419	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182692026	chr8:107573420-107573421	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569851396	chr8:107573423-107573424	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187143722	chr8:107573474-107573475	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200809511	chr8:107573476-107573477	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114017122	chr8:107573478-107573479	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573449944	chr8:107573510-107573511	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192799002	chr8:107573519-107573520	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113597540	chr8:107573581-107573582	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182517501	chr8:107573587-107573588	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189178339	chr8:107573614-107573615	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117734809	chr8:107573631-107573632	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs1789972	chr8:107573674-107573675	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369070055	chr8:107573737-107573738	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544071006	chr8:107573752-107573753	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570962999	chr8:107573771-107573772	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562158859	chr8:107573772-107573773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529407893	chr8:107573823-107573824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111942275	chr8:107573840-107573841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547433587	chr8:107573845-107573846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559712519	chr8:107573891-107573892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533046713	chr8:107573930-107573931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107512400-107620200	Weak transcription	Aorta	Aorta
2	chr8:107568800-107574000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:107569200-107580600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:107569600-107573000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:107569600-107573600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr8:107571200-107573000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr8:107572800-107573800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:107572800-107574400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:107573800-107574000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:107573800-107589800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:107576000-107580200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:107579200-107579800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:107579200-107579800	Enhancers	Brain Germinal Matrix	brain
14	chr8:107579400-107579800	Enhancers	Colon Smooth Muscle	Colon
15	chr8:107580200-107580600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:107580200-107581000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr8:107580200-107581200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:107580400-107580800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:107580400-107580800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:107580400-107581000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr8:107580600-107583800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:107581000-107583000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:107582800-107583000	Bivalent Enhancer	HSMMtube	muscle
24	chr8:107585800-107589800	Weak transcription	Pancreas	Pancrea
25	chr8:107586200-107587000	Enhancers	Brain Germinal Matrix	brain
26	chr8:107586600-107586800	Enhancers	Gastric	stomach
27	chr8:107586600-107587000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:107586800-107590000	Weak transcription	Gastric	stomach
29	chr8:107587000-107592000	Weak transcription	Brain Germinal Matrix	brain
30	chr8:107589800-107590200	Enhancers	Lung	lung
31	chr8:107589800-107590200	Enhancers	Pancreas	Pancrea
32	chr8:107589800-107590400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:107590000-107590200	Enhancers	Gastric	stomach
34	chr8:107590000-107590400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr8:107590000-107590400	Enhancers	HSMMtube	muscle
36	chr8:107590000-107590400	Active TSS	K562	blood
37	chr8:107590000-107591800	Enhancers	Stomach Mucosa	stomach
38	chr8:107590000-107593600	Enhancers	Fetal Intestine Small	intestine
39	chr8:107590000-107593800	Enhancers	Fetal Intestine Large	intestine
40	chr8:107590200-107591200	Weak transcription	Gastric	stomach
41	chr8:107590200-107601400	Weak transcription	Pancreas	Pancrea

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