Variant report

Variant	esv3348232
Chromosome Location	chr7:39810724-39822505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:39813917-39814187	GM12878	blood:	n/a	n/a
2	BATF	chr7:39813857-39814230	GM12878	blood:	n/a	n/a
3	CEBPB	chr7:39821141-39821517	IMR90	lung:	n/a	n/a
4	CEBPB	chr7:39816765-39817021	IMR90	lung:	n/a	chr7:39816882-39816893
5	CEBPB	chr7:39816708-39817080	HepG2	liver:	n/a	chr7:39816882-39816893
6	CEBPB	chr7:39816708-39817032	K562	blood:	n/a	chr7:39816882-39816893
7	CEBPB	chr7:39816783-39817025	A549	lung:	n/a	chr7:39816882-39816893
8	CTCF	chr7:39815110-39815169	GM13976	blood:	n/a	n/a
9	FOS	chr7:39821146-39821466	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr7:39821189-39821419	HUVEC	blood vessel:	n/a	n/a
11	FOS	chr7:39821149-39821458	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr7:39821134-39821466	MCF10A-Er-Src	breast:	n/a	n/a
13	FOSL2	chr7:39818913-39819339	HepG2	liver:	n/a	chr7:39819125-39819136
14	FOSL2	chr7:39818910-39819228	HepG2	liver:	n/a	chr7:39819125-39819136
15	IRF4	chr7:39813933-39814199	GM12878	blood:	n/a	n/a
16	MYC	chr7:39821301-39821358	MCF10A-Er-Src	breast:	n/a	n/a
17	PAX5	chr7:39813834-39814221	GM12878	blood:	n/a	n/a
18	POLR2A	chr7:39813314-39813461	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:39821102-39821452	U87	brain:	n/a	n/a
20	POLR2A	chr7:39812328-39812560	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:39812816-39812832	Hela-S3	cervix:	n/a	n/a
22	REST	chr7:39814086-39814286	GM12878	blood:	n/a	n/a
23	REST	chr7:39814078-39814276	PANC-1	pancreas:	n/a	n/a
24	REST	chr7:39813927-39814353	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr7:39813944-39814557	PFSK-1	brain:	n/a	n/a
26	REST	chr7:39814101-39814163	K562	blood:	n/a	n/a
27	REST	chr7:39814087-39814253	K562	blood:	n/a	n/a
28	REST	chr7:39813934-39814372	H1-hESC	embryonic stem cell:	n/a	n/a
29	REST	chr7:39814170-39814372	ECC-1	luminal epithelium:	n/a	n/a
30	REST	chr7:39813951-39814439	PFSK-1	brain:	n/a	n/a
31	REST	chr7:39813992-39814295	HepG2	liver:	n/a	n/a
32	REST	chr7:39813987-39814402	HepG2	liver:	n/a	n/a
33	REST	chr7:39813965-39814436	PFSK-1	brain:	n/a	n/a
34	REST	chr7:39814039-39814336	PFSK-1	brain:	n/a	n/a
35	REST	chr7:39814037-39814315	PANC-1	pancreas:	n/a	n/a
36	REST	chr7:39813996-39814377	SK-N-SH	brain:	n/a	n/a
37	REST	chr7:39813916-39814304	U87	brain:	n/a	n/a
38	REST	chr7:39813921-39814499	GM12878	blood:	n/a	n/a
39	REST	chr7:39814038-39814335	SK-N-SH	brain:	n/a	n/a
40	REST	chr7:39814037-39814351	GM12878	blood:	n/a	n/a
41	REST	chr7:39814195-39814333	ECC-1	luminal epithelium:	n/a	n/a
42	REST	chr7:39814058-39814297	U87	brain:	n/a	n/a
43	REST	chr7:39813976-39814378	U87	brain:	n/a	n/a
44	REST	chr7:39814049-39814237	HepG2	liver:	n/a	n/a
45	SP1	chr7:39818884-39819246	HepG2	liver:	n/a	n/a
46	SPI1	chr7:39819719-39819896	K562	blood:	n/a	chr7:39819793-39819806 chr7:39819794-39819807 chr7:39819796-39819805
47	STAT3	chr7:39821139-39821459	MCF10A-Er-Src	breast:	n/a	chr7:39821280-39821291
48	STAT3	chr7:39821145-39821465	MCF10A-Er-Src	breast:	n/a	chr7:39821280-39821291
49	STAT3	chr7:39821148-39821469	MCF10A-Er-Src	breast:	n/a	chr7:39821280-39821291
50	TCF12	chr7:39813774-39814090	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALA-1	chr7:39822334-39822369	XLOC_006058
2	lnc-RALA-1	chr7:39820934-39820950	XLOC_006058
3	lnc-RALA-1	chr7:39822334-39822398	ENSG00000188185
4	lnc-RALA-1	chr7:39820742-39821484	NONHSAT120225
5	lnc-RALA-1	chr7:39821706-39821711	XLOC_006058
6	lnc-RALA-1	chr7:39811849-39812029	XLOC_006057
7	lnc-RALA-1	chr7:39822334-39822346	NONHSAT120225
8	lnc-RALA-1	chr7:39821343-39821627	XLOC_006058
9	lnc-RALA-1	chr7:39820783-39821484	XLOC_006058
10	lnc-RALA-1	chr7:39818870-39819091	XLOC_006057
11	lnc-RALA-1	chr7:39821288-39821495	ENSG00000188185
12	lnc-RALA-1	chr7:39821161-39821495	XLOC_006058
13	lnc-RALA-1	chr7:39822334-39822369	XLOC_006058
14	lnc-RALA-1	chr7:39821161-39821484	XLOC_006058

No data

Variant related genes	Relation type
LINC00265	TF binding region
SMARCD1	miRNA target sites
TMED10	miRNA target sites

Extended variants
information (count: 519 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:519 , 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	rs10252924	chr7:39810740-39810741	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372717909	chr7:39810748-39810749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377487004	chr7:39810759-39810760	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557952882	chr7:39810787-39810788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28650377	chr7:39810813-39810814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192732169	chr7:39810841-39810842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147132265	chr7:39810844-39810845	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556947253	chr7:39810872-39810873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184330268	chr7:39810882-39810883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536289016	chr7:39810897-39810898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140322335	chr7:39810917-39810918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188290149	chr7:39810934-39810935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541234308	chr7:39810947-39810948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564712695	chr7:39811004-39811005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577669380	chr7:39811029-39811030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543509634	chr7:39811064-39811065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144498047	chr7:39811070-39811071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541170766	chr7:39811073-39811074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181806245	chr7:39811089-39811090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185081533	chr7:39811103-39811104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10240817	chr7:39811168-39811169	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs147441642	chr7:39811180-39811181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189071756	chr7:39811249-39811250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372604229	chr7:39811275-39811276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370495504	chr7:39811278-39811279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550685055	chr7:39811363-39811364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10241244	chr7:39811383-39811384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11764316	chr7:39811596-39811597	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs552951234	chr7:39811599-39811600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538959232	chr7:39811652-39811653	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542816812	chr7:39811663-39811664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572612466	chr7:39811671-39811672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535331014	chr7:39811728-39811729	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371262391	chr7:39811744-39811745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561047250	chr7:39811802-39811803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531545968	chr7:39811815-39811816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144326800	chr7:39811820-39811821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563417926	chr7:39811831-39811832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111743177	chr7:39811837-39811838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542620327	chr7:39811885-39811886	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs559704252	chr7:39811896-39811897	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs528325741	chr7:39811966-39811967	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs551648443	chr7:39812044-39812045	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182105256	chr7:39812073-39812074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145162099	chr7:39812099-39812100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186296833	chr7:39812153-39812154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368567698	chr7:39812159-39812160	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117092168	chr7:39812197-39812198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111324084	chr7:39812262-39812263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546231986	chr7:39812302-39812303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39775800-39811200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr7:39776600-39820400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:39785000-39831800	Weak transcription	Primary B cells from cord blood	blood
4	chr7:39794000-39830800	Weak transcription	Pancreas	Pancrea
5	chr7:39794200-39820800	Weak transcription	Ovary	ovary
6	chr7:39794200-39837400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:39794600-39830800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:39795400-39813000	Weak transcription	GM12878-XiMat	blood
9	chr7:39795400-39833400	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:39795800-39811400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:39798000-39811800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr7:39798200-39820800	Weak transcription	Esophagus	oesophagus
13	chr7:39798200-39831000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr7:39798400-39830800	Weak transcription	Fetal Intestine Small	intestine
15	chr7:39799000-39821200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:39799800-39820400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:39801600-39810800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:39801600-39820800	Weak transcription	Placenta	Placenta
19	chr7:39801600-39831600	Weak transcription	Gastric	stomach
20	chr7:39801600-39833600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr7:39801800-39831000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:39801800-39831400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:39802000-39830800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:39802000-39835200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:39802200-39812000	Weak transcription	Fetal Intestine Large	intestine
26	chr7:39802600-39812400	Weak transcription	NH-A	brain
27	chr7:39802600-39820200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:39802600-39821200	Weak transcription	Adipose Nuclei	Adipose
29	chr7:39802600-39833000	Weak transcription	Dnd41	blood
30	chr7:39802800-39812400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:39802800-39830800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:39802800-39835000	Weak transcription	Brain Hippocampus Middle	brain
33	chr7:39803000-39820400	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr7:39803000-39820800	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:39803000-39824400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:39803400-39820200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:39803400-39832000	Weak transcription	Fetal Thymus	thymus
38	chr7:39803600-39820400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:39805200-39834400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr7:39805400-39821000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:39805400-39831000	Weak transcription	Fetal Brain Female	brain
42	chr7:39805600-39810800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr7:39805600-39823400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr7:39806000-39822800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr7:39806200-39820800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr7:39806400-39814600	Weak transcription	Fetal Lung	lung
47	chr7:39806800-39811200	Weak transcription	Aorta	Aorta
48	chr7:39807000-39810800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr7:39807200-39812200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr7:39807400-39811000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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