Variant report

Variant	nsv436556
Chromosome Location	chr7:66403338-66410081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr7:66406838-66406971	K562	blood:	n/a	n/a
2	EP300	chr7:66409547-66409621	K562	blood:	n/a	n/a
3	MAFF	chr7:66404351-66404648	HepG2	liver:	n/a	n/a
4	MAFF	chr7:66404338-66404665	K562	blood:	n/a	n/a
5	MAFK	chr7:66404343-66404644	IMR90	lung:	n/a	n/a
6	MAFK	chr7:66404328-66404681	HepG2	liver:	n/a	n/a
7	MAFK	chr7:66404434-66404633	Hela-S3	cervix:	n/a	n/a
8	MAFK	chr7:66404400-66404651	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:66405541-66405734	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:66404514-66404889	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:66404932-66404942	K562	blood:	n/a	n/a
12	POLR2A	chr7:66406840-66406875	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:66410044-66410058	A549	lung:	n/a	n/a
14	POLR2A	chr7:66408203-66408479	GM12878	blood:	n/a	n/a
15	POLR2A	chr7:66405385-66406064	K562	blood:	n/a	n/a
16	POLR2A	chr7:66406365-66406562	GM12878	blood:	n/a	n/a
17	POLR2A	chr7:66405507-66405899	GM12891	blood:	n/a	n/a
18	POLR2A	chr7:66406732-66406924	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr7:66405190-66405923	K562	blood:	n/a	n/a
20	POLR2A	chr7:66405427-66405690	K562	blood:	n/a	n/a
21	POLR2A	chr7:66405311-66405929	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:66404080-66404718	K562	blood:	n/a	n/a
23	POLR2A	chr7:66405473-66405769	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr7:66406567-66406668	HepG2	liver:	n/a	n/a
25	POLR2A	chr7:66409385-66409433	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr7:66408319-66408361	K562	blood:	n/a	n/a
27	POLR2A	chr7:66406144-66406305	HepG2	liver:	n/a	n/a
28	POLR2A	chr7:66405780-66405826	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr7:66404178-66404799	K562	blood:	n/a	n/a
30	POLR2A	chr7:66405352-66405999	GM12892	blood:	n/a	n/a
31	POLR2A	chr7:66406689-66407094	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:66405435-66405822	K562	blood:	n/a	n/a
33	POLR2A	chr7:66406338-66406682	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:66404496-66404973	GM12878	blood:	n/a	n/a
35	POLR2A	chr7:66405118-66405271	K562	blood:	n/a	n/a
36	POLR2A	chr7:66406771-66407078	K562	blood:	n/a	n/a
37	POLR2A	chr7:66406523-66406566	HepG2	liver:	n/a	n/a
38	POLR2A	chr7:66405311-66405762	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:66406730-66407201	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:66405558-66405862	HepG2	liver:	n/a	n/a
41	POLR2A	chr7:66406048-66406336	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:66405408-66405906	GM12892	blood:	n/a	n/a
43	POLR2A	chr7:66406472-66406511	HepG2	liver:	n/a	n/a
44	RFX5	chr7:66404507-66404517	GM12878	blood:	n/a	n/a
45	SETDB1	chr7:66402901-66403357	U2OS	brain:	n/a	n/a
46	TBL1XR1	chr7:66405594-66405676	K562	blood:	n/a	n/a
47	WRNIP1	chr7:66406767-66406803	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66402042..66403954-chr7:66405152..66407138,2	MCF-7	breast:
2	chr7:66391302..66393822-chr7:66405825..66407426,2	K562	blood:
3	chr7:66402496..66404175-chr7:66454564..66457521,2	K562	blood:
4	chr7:66403915..66405990-chr7:66414278..66417036,2	K562	blood:
5	chr7:66410050..66411719-chr7:66411863..66413984,2	K562	blood:
6	chr7:66403410..66405393-chr7:66457555..66459835,2	K562	blood:
7	chr7:66402042..66403954-chr7:66405152..66407138,2	MCF-7	breast:
8	chr7:66395155..66398077-chr7:66403876..66405793,2	MCF-7	breast:
9	chr7:66404078..66407158-chr7:66408723..66411794,4	K562	blood:
10	chr7:66384580..66387165-chr7:66405669..66409377,3	K562	blood:

No data

Variant related genes	Relation type
TMEM248	TF binding region
ENSG00000106609	chromatin interactions
ENSG00000126524	chromatin interactions

Extended variants
information (count: 261 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564176541	chr7:66403370-66403371	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs112798064	chr7:66403441-66403442	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561253517	chr7:66403462-66403463	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs542463092	chr7:66403526-66403527	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563180580	chr7:66403532-66403533	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs530796865	chr7:66403538-66403539	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs192364772	chr7:66403549-66403550	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549003758	chr7:66403557-66403558	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs139951004	chr7:66403587-66403588	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565844824	chr7:66403588-66403589	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs534160078	chr7:66403607-66403608	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549808114	chr7:66403683-66403684	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547494739	chr7:66403730-66403731	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560704083	chr7:66403772-66403773	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12533830	chr7:66403851-66403852	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs140075461	chr7:66403894-66403895	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs183816136	chr7:66403917-66403918	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs144118497	chr7:66403921-66403922	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201213273	chr7:66404017-66404018	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs188504360	chr7:66404018-66404019	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs146002028	chr7:66404035-66404036	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs139892751	chr7:66404095-66404096	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs149750708	chr7:66404116-66404117	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs181305123	chr7:66404129-66404130	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs36108825	chr7:66404136-66404137	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs397889422	chr7:66404137-66404138	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs185780219	chr7:66404144-66404145	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs13437994	chr7:66404145-66404146	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs529012521	chr7:66404167-66404168	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs145610689	chr7:66404172-66404173	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs148832133	chr7:66404209-66404210	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs190076073	chr7:66404242-66404243	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs374800223	chr7:66404248-66404249	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs371333998	chr7:66404250-66404251	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs117347277	chr7:66404268-66404269	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535233246	chr7:66404272-66404273	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs539936879	chr7:66404274-66404275	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs79669133	chr7:66404277-66404278	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs115610475	chr7:66404320-66404321	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs34816289	chr7:66404337-66404338	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs568415876	chr7:66404361-66404362	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs142510489	chr7:66404377-66404378	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs566342988	chr7:66404400-66404401	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs537042741	chr7:66404523-66404524	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs182239147	chr7:66404543-66404544	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs75851685	chr7:66404557-66404558	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs147600154	chr7:66404567-66404568	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs543021647	chr7:66404579-66404580	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs142075865	chr7:66404607-66404608	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs187208960	chr7:66404627-66404628	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66387600-66407200	Weak transcription	NH-A	brain
2	chr7:66387600-66409800	Weak transcription	Fetal Kidney	kidney
3	chr7:66387600-66428000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:66388200-66406800	Weak transcription	NHLF	lung
5	chr7:66388400-66406800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:66388400-66406800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:66388600-66403600	Weak transcription	HUVEC	blood vessel
8	chr7:66388600-66403800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:66388600-66406800	Weak transcription	NHDF-Ad	bronchial
10	chr7:66389000-66406800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr7:66389400-66405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:66390600-66403800	Weak transcription	HSMM	muscle
13	chr7:66391200-66409800	Weak transcription	Brain Germinal Matrix	brain
14	chr7:66392600-66403400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr7:66393000-66403600	Weak transcription	HepG2	liver
16	chr7:66393000-66406600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:66393400-66411800	Weak transcription	Stomach Mucosa	stomach
18	chr7:66393800-66422200	Weak transcription	Fetal Heart	heart
19	chr7:66394000-66403600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr7:66394200-66403800	Weak transcription	Hela-S3	cervix
21	chr7:66394200-66405400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:66394200-66408000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:66394400-66405400	Weak transcription	HMEC	breast
24	chr7:66394400-66405600	Weak transcription	Colonic Mucosa	Colon
25	chr7:66395000-66404000	Weak transcription	NHEK	skin
26	chr7:66395400-66404000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:66395400-66406800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:66395400-66406800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr7:66395600-66403600	Weak transcription	A549	lung
30	chr7:66395600-66404600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:66395600-66405400	Weak transcription	Right Atrium	heart
32	chr7:66395600-66407000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:66395800-66404000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr7:66395800-66405400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:66395800-66406400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:66395800-66406800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:66395800-66406800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:66395800-66406800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:66395800-66408000	Weak transcription	Esophagus	oesophagus
40	chr7:66395800-66412800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr7:66396000-66403600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr7:66396000-66403600	Weak transcription	Thymus	Thymus
43	chr7:66396000-66404000	Weak transcription	Primary B cells from cord blood	blood
44	chr7:66396000-66404000	Weak transcription	Brain Substantia Nigra	brain
45	chr7:66396000-66405400	Weak transcription	Spleen	Spleen
46	chr7:66396000-66406600	Weak transcription	Liver	Liver
47	chr7:66396000-66406600	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:66396000-66406800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr7:66396000-66408200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:66396000-66409800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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