Variant report

Variant	nsv888621
Chromosome Location	chr7:83526743-83566026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr7:83555068-83555782	GM12878	blood:	n/a	n/a
2	ATF2	chr7:83551380-83551708	GM12878	blood:	n/a	n/a
3	BATF	chr7:83551368-83551666	GM12878	blood:	n/a	chr7:83551525-83551538 chr7:83551542-83551553
4	BATF	chr7:83555141-83555572	GM12878	blood:	n/a	n/a
5	BHLHE40	chr7:83565466-83565754	GM12878	blood:	n/a	n/a
6	BRCA1	chr7:83565418-83565675	Hela-S3	cervix:	n/a	n/a
7	BRCA1	chr7:83565449-83565764	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr7:83554553-83555091	IMR90	lung:	n/a	chr7:83554931-83554942
9	CEBPB	chr7:83535573-83535698	HepG2	liver:	n/a	chr7:83535595-83535606
10	CEBPB	chr7:83554494-83555065	HepG2	liver:	n/a	chr7:83554931-83554942
11	CEBPB	chr7:83554841-83555055	H1-hESC	embryonic stem cell:	n/a	chr7:83554931-83554942
12	CEBPB	chr7:83554819-83555052	K562	blood:	n/a	chr7:83554931-83554942
13	CEBPB	chr7:83540680-83540974	K562	blood:	n/a	chr7:83540811-83540822 chr7:83540809-83540822 chr7:83540809-83540822
14	CREB1	chr7:83551295-83551808	GM12878	blood:	n/a	chr7:83551525-83551538
15	CTCF	chr7:83564240-83564390	GM12873	blood:	n/a	n/a
16	CTCF	chr7:83564260-83564410	AG04450	lung:	n/a	n/a
17	CTCF	chr7:83563440-83563590	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr7:83563580-83563730	HRE	kidney:	n/a	chr7:83563644-83563665 chr7:83563642-83563660 chr7:83563643-83563659 chr7:83563647-83563655
19	CTCF	chr7:83565800-83565950	AG04449	skin:	n/a	n/a
20	CTCF	chr7:83565460-83565610	GM12869	blood:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
21	CTCF	chr7:83563640-83563790	NHDF-neo	bronchial:	n/a	chr7:83563644-83563665 chr7:83563642-83563660 chr7:83563643-83563659 chr7:83563647-83563655
22	CTCF	chr7:83563500-83563650	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr7:83564943-83564987	A549	lung:	n/a	n/a
24	CTCF	chr7:83564400-83564550	HCPEpiC	choroid plexus:	n/a	n/a
25	CTCF	chr7:83563540-83563690	HRPEpiC	eye:	n/a	chr7:83563644-83563665 chr7:83563642-83563660 chr7:83563643-83563659 chr7:83563647-83563655
26	CTCF	chr7:83565439-83565694	HepG2	liver:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
27	CTCF	chr7:83563780-83563930	HCM	heart:	n/a	n/a
28	CTCF	chr7:83565460-83565610	GM12864	blood:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
29	CTCF	chr7:83565540-83565690	GM12866	blood:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
30	CTCF	chr7:83565120-83565270	GM12873	blood:	n/a	n/a
31	CTCF	chr7:83565500-83565650	WERI-Rb-1	eye:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
32	CTCF	chr7:83565520-83565670	GM12873	blood:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
33	CTCF	chr7:83565440-83565590	K562	blood:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
34	CTCF	chr7:83565400-83565550	A549	lung:	n/a	n/a
35	CTCF	chr7:83563400-83563550	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr7:83563500-83563650	HA-sp	spinal cord:	n/a	n/a
37	CTCF	chr7:83565132-83566323	SK-N-SH	brain:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
38	CTCF	chr7:83565440-83565590	HCT-116	colon:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
39	CTCF	chr7:83565520-83565670	GM12875	blood:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
40	CTCF	chr7:83565400-83565853	MCF-7	breast:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
41	CTCF	chr7:83563620-83563770	HFF	foreskin:	n/a	chr7:83563644-83563665 chr7:83563642-83563660 chr7:83563643-83563659 chr7:83563647-83563655
42	CTCF	chr7:83563649-83563686	GM10248	blood:	n/a	n/a
43	CTCF	chr7:83565500-83565650	HepG2	liver:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
44	CTCF	chr7:83564040-83564190	HMEC	breast:	n/a	n/a
45	CTCF	chr7:83563600-83563750	HRE	kidney:	n/a	chr7:83563644-83563665 chr7:83563642-83563660 chr7:83563643-83563659 chr7:83563647-83563655
46	CTCF	chr7:83563639-83563702	Pancreas_OC	pancreas:	n/a	chr7:83563644-83563665 chr7:83563642-83563660 chr7:83563643-83563659 chr7:83563647-83563655
47	CTCF	chr7:83565466-83565699	T-47D	breast:	n/a	chr7:83565566-83565579 chr7:83565564-83565580 chr7:83565565-83565586 chr7:83565563-83565581
48	CTCF	chr7:83563580-83563730	K562	blood:	n/a	chr7:83563644-83563665 chr7:83563642-83563660 chr7:83563643-83563659 chr7:83563647-83563655
49	CTCF	chr7:83563640-83563790	SAEC	small airway:	n/a	chr7:83563644-83563665 chr7:83563642-83563660 chr7:83563643-83563659 chr7:83563647-83563655
50	CTCF	chr7:83563540-83563690	HBMEC	blood vessel:	n/a	chr7:83563644-83563665 chr7:83563642-83563660 chr7:83563643-83563659 chr7:83563647-83563655

No.	Distal block	Cell Line	Cell type
1	chr7:83565463..83566294-chr7:84650183..84651031,3	MCF-7	breast:
2	chr7:83550642..83552597-chr7:83556117..83557973,2	K562	blood:
3	chr7:83541356..83543273-chr7:83544365..83547061,2	K562	blood:
4	chr7:83565232..83565801-chr7:83605263..83606020,2	MCF-7	breast:
5	chr7:83550642..83552597-chr7:83556117..83557973,2	K562	blood:
6	chr7:83564713..83565606-chr7:84650120..84650631,2	MCF-7	breast:
7	chr7:83541356..83543273-chr7:83544365..83547061,2	K562	blood:
8	chr7:83544092..83546741-chr7:83548578..83551192,2	K562	blood:
9	chr7:83565131..83565850-chr7:83576346..83577146,2	MCF-7	breast:
10	chr7:83565163..83566042-chr7:84652056..84653009,4	K562	blood:
11	chr7:83565457..83566057-chr7:83576662..83577256,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222994	TF binding region
ENSG00000222994	chromatin interactions

Extended variants
information (count: 564 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536456226	chr7:83537209-83537210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs28647491	chr7:83537214-83537215	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376483920	chr7:83537230-83537231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143888698	chr7:83537235-83537236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568917508	chr7:83537247-83537248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189036818	chr7:83537260-83537261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554744440	chr7:83537289-83537290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568024627	chr7:83537416-83537417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147274819	chr7:83537440-83537441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534042043	chr7:83537443-83537444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs558896232	chr7:83537447-83537448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139818081	chr7:83537450-83537451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544634643	chr7:83537460-83537461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376571318	chr7:83537476-83537477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574854735	chr7:83537481-83537482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542005846	chr7:83537488-83537489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560727151	chr7:83537496-83537497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536552670	chr7:83537509-83537510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572308602	chr7:83537531-83537532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546059651	chr7:83537534-83537535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182091804	chr7:83537574-83537575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369387256	chr7:83537595-83537596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531914335	chr7:83537677-83537678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57312932	chr7:83537745-83537746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71076091	chr7:83537746-83537747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149718782	chr7:83537765-83537766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534286380	chr7:83537786-83537787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145580453	chr7:83537827-83537828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550402443	chr7:83537832-83537833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73175693	chr7:83537859-83537860	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs185254441	chr7:83537867-83537868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148477807	chr7:83537876-83537877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552467654	chr7:83537885-83537886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144158667	chr7:83537933-83537934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537779496	chr7:83537964-83537965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556519153	chr7:83537968-83537969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368339135	chr7:83537999-83538000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574781282	chr7:83538061-83538062	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs539262206	chr7:83538082-83538083	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs535896360	chr7:83538093-83538094	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs543689748	chr7:83538103-83538104	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563441887	chr7:83538116-83538117	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs553995166	chr7:83538120-83538121	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs201803142	chr7:83538168-83538169	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs386715321	chr7:83538170-83538171	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201686275	chr7:83538171-83538172	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs564366670	chr7:83538174-83538175	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146415230	chr7:83538178-83538179	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs115150744	chr7:83538182-83538183	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574871729	chr7:83538235-83538236	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83537200-83538800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:83537400-83538200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr7:83537800-83538000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr7:83538000-83538400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr7:83550000-83552400	Enhancers	Fetal Lung	lung
6	chr7:83550600-83552000	Enhancers	Fetal Stomach	stomach
7	chr7:83550800-83551600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:83551000-83551600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:83551200-83552000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:83551200-83552000	Enhancers	NHDF-Ad	bronchial
11	chr7:83551400-83552000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:83551400-83552000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr7:83551400-83552000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:83551600-83552000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:83551600-83552000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:83551600-83552000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:83551600-83552000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr7:83551600-83552000	Enhancers	Fetal Muscle Leg	muscle
19	chr7:83551600-83552000	Enhancers	Osteobl	bone
20	chr7:83551600-83552200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:83551800-83552200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:83552000-83552200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr7:83552000-83552200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:83554200-83554600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:83554600-83555600	Enhancers	GM12878-XiMat	blood
26	chr7:83555600-83556000	Weak transcription	GM12878-XiMat	blood
27	chr7:83556200-83556400	Enhancers	GM12878-XiMat	blood
28	chr7:83559600-83560200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr7:83560200-83564200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:83561200-83561600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:83564200-83565200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr7:83564200-83566200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:83564400-83564600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:83564400-83564600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr7:83564400-83565400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr7:83564600-83565600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:83565200-83565600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr7:83565400-83565800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr7:83565600-83566000	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr7:83565600-83566000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr7:83565600-83566000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:83565600-83566000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr7:83565600-83566000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:83565600-83566000	Enhancers	Adipose Nuclei	Adipose
45	chr7:83565600-83566000	Enhancers	Brain Anterior Caudate	brain
46	chr7:83565600-83566000	Enhancers	Brain Cingulate Gyrus	brain
47	chr7:83565600-83566000	Enhancers	Colon Smooth Muscle	Colon
48	chr7:83565600-83567600	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr7:83565800-83566200	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr7:83566000-83568600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links