Variant report

Variant	nsv966862
Chromosome Location	chr7:98013804-98016402
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:98015682-98015874	GM12878	blood:	n/a	n/a
2	BATF	chr7:98015317-98015518	GM12878	blood:	n/a	n/a
3	CEBPB	chr7:98014693-98014841	K562	blood:	n/a	chr7:98014788-98014799
4	CEBPB	chr7:98014736-98014874	HepG2	liver:	n/a	chr7:98014788-98014799
5	CEBPB	chr7:98014722-98014852	A549	lung:	n/a	chr7:98014788-98014799
6	EP300	chr7:98015677-98015960	GM12878	blood:	n/a	n/a
7	FOSL2	chr7:98015060-98015613	HepG2	liver:	n/a	n/a
8	GABPA	chr7:98015794-98015926	HepG2	liver:	n/a	n/a
9	GABPA	chr7:98015806-98015924	HepG2	liver:	n/a	n/a
10	GATA2	chr7:98015040-98016014	K562	blood:	n/a	n/a
11	HEY1	chr7:98015665-98015950	K562	blood:	n/a	n/a
12	HEY1	chr7:98015332-98015683	HepG2	liver:	n/a	n/a
13	HEY1	chr7:98015733-98015964	HepG2	liver:	n/a	n/a
14	HEY1	chr7:98015686-98015968	HepG2	liver:	n/a	n/a
15	HEY1	chr7:98015086-98015961	K562	blood:	n/a	n/a
16	IRF4	chr7:98015257-98015640	GM12878	blood:	n/a	n/a
17	IRF4	chr7:98015407-98015990	GM12878	blood:	n/a	n/a
18	JUND	chr7:98015786-98015940	HepG2	liver:	n/a	n/a
19	JUND	chr7:98015814-98015926	HepG2	liver:	n/a	n/a
20	JUND	chr7:98015347-98015548	HepG2	liver:	n/a	n/a
21	PAX5	chr7:98015768-98015945	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:98015722-98015901	A549	lung:	n/a	n/a
23	POLR2A	chr7:98015662-98016015	GM12878	blood:	n/a	n/a
24	POLR2A	chr7:98015612-98015907	MCF-7	breast:	n/a	n/a
25	POLR2A	chr7:98015684-98016009	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr7:98015809-98015910	A549	lung:	n/a	n/a
27	POLR2A	chr7:98015421-98015973	GM12891	blood:	n/a	n/a
28	POLR2A	chr7:98015550-98016010	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr7:98015727-98015969	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:98015735-98015963	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr7:98015685-98015955	GM12891	blood:	n/a	n/a
32	POLR2A	chr7:98015696-98015937	GM12891	blood:	n/a	n/a
33	POLR2A	chr7:98015858-98015902	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr7:98015802-98015972	SK-N-SH	brain:	n/a	n/a
35	POLR2A	chr7:98015093-98016027	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr7:98015656-98015907	ProgFib	skin:	n/a	n/a
37	POLR2A	chr7:98015766-98016016	U87	brain:	n/a	n/a
38	POLR2A	chr7:98015735-98015934	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr7:98015802-98015923	A549	lung:	n/a	n/a
40	POLR2A	chr7:98015801-98015956	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:98015077-98015199	HepG2	liver:	n/a	n/a
42	POLR2A	chr7:98015869-98015893	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:98015264-98015627	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr7:98015737-98015965	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr7:98015741-98016061	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr7:98015669-98016091	PANC-1	pancreas:	n/a	n/a
47	POLR2A	chr7:98015708-98015970	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr7:98015760-98015995	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr7:98015640-98016017	GM12891	blood:	n/a	n/a
50	POLR2A	chr7:98015767-98015916	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:98015865..98017595-chr7:98028896..98031691,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPS3AP26	TF binding region
ENSG00000006453	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12539761	chr7:98013839-98013840	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577347964	chr7:98013851-98013852	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369572803	chr7:98013870-98013871	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs139761617	chr7:98013911-98013912	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs11413562	chr7:98014005-98014006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146074730	chr7:98014026-98014027	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11772432	chr7:98014041-98014042	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs537950026	chr7:98014054-98014055	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs571718812	chr7:98014074-98014075	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs542171561	chr7:98014080-98014081	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs111749432	chr7:98014084-98014085	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs533739612	chr7:98014093-98014094	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576024514	chr7:98014095-98014096	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144451397	chr7:98014106-98014107	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs564959306	chr7:98014113-98014114	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532328645	chr7:98014116-98014117	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs58891376	chr7:98014122-98014123	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs2394853	chr7:98014127-98014128	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs60608546	chr7:98014136-98014137	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs541375329	chr7:98014164-98014165	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs559645947	chr7:98014167-98014168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs148411535	chr7:98014185-98014186	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs548572905	chr7:98014212-98014213	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs570148452	chr7:98014239-98014240	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs530937323	chr7:98014279-98014280	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs183133395	chr7:98014316-98014317	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570998813	chr7:98014317-98014318	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs549970646	chr7:98014331-98014332	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs373065405	chr7:98014334-98014335	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs574618503	chr7:98014336-98014337	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs533834879	chr7:98014340-98014341	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568389445	chr7:98014346-98014347	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs535863452	chr7:98014349-98014350	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187121743	chr7:98014430-98014431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs575968778	chr7:98014432-98014433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6960566	chr7:98014448-98014449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112675086	chr7:98014464-98014465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376424013	chr7:98014525-98014526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558608613	chr7:98014528-98014529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192349013	chr7:98014560-98014561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182448160	chr7:98014574-98014575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140391645	chr7:98014607-98014608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529981821	chr7:98014608-98014609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187871281	chr7:98014610-98014611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144421272	chr7:98014638-98014639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530926368	chr7:98014640-98014641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569509255	chr7:98014682-98014683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191448377	chr7:98014706-98014707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573043112	chr7:98014784-98014785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147811526	chr7:98014793-98014794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97990400-98017200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:97990400-98028000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:97992000-98029400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:97992800-98017400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:97995800-98028200	Weak transcription	Esophagus	oesophagus
6	chr7:98002600-98027600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:98003000-98021600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:98003000-98023600	Weak transcription	Hela-S3	cervix
9	chr7:98003400-98016600	Weak transcription	NHEK	skin
10	chr7:98004000-98017200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:98005800-98018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:98007400-98016600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:98007400-98028000	Weak transcription	Fetal Stomach	stomach
14	chr7:98007800-98018400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:98008200-98014200	Weak transcription	Lung	lung
16	chr7:98008800-98014000	Weak transcription	Pancreas	Pancrea
17	chr7:98009800-98017800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:98010400-98016200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:98010400-98021200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:98010800-98015400	Weak transcription	HMEC	breast
21	chr7:98011000-98014000	Weak transcription	Gastric	stomach
22	chr7:98011000-98014800	Weak transcription	Colonic Mucosa	Colon
23	chr7:98011000-98014800	Enhancers	Fetal Intestine Small	intestine
24	chr7:98011000-98016200	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:98011000-98016400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:98011000-98016400	Weak transcription	A549	lung
27	chr7:98011200-98020800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:98011200-98021000	Weak transcription	GM12878-XiMat	blood
29	chr7:98011200-98021200	Weak transcription	HepG2	liver
30	chr7:98011600-98016400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr7:98011800-98016200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:98013000-98015000	Enhancers	Liver	Liver
33	chr7:98013200-98016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:98013400-98014000	Active TSS	Duodenum Mucosa	Duodenum
35	chr7:98013400-98014000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr7:98013400-98014000	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr7:98013600-98014000	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr7:98013600-98014600	Enhancers	Fetal Intestine Large	intestine
39	chr7:98013600-98023600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:98013800-98015200	Enhancers	Stomach Mucosa	stomach
41	chr7:98014000-98014200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr7:98014000-98014400	Enhancers	Gastric	stomach
43	chr7:98014000-98014400	Enhancers	Pancreas	Pancrea
44	chr7:98014000-98014400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr7:98014000-98014400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr7:98014200-98014600	Enhancers	Duodenum Mucosa	Duodenum
47	chr7:98014200-98014600	Enhancers	Lung	lung
48	chr7:98014200-98027200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:98014400-98016400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr7:98014400-98016400	Weak transcription	Rectal Mucosa Donor 31	rectum

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