Variant report

Variant	nsv981639
Chromosome Location	chr7:57708043-57722465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:919)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr7:57708717-57708917	K562	blood:	n/a	n/a
2	BHLHE40	chr7:57710672-57710854	K562	blood:	n/a	n/a
3	BHLHE40	chr7:57708547-57708919	K562	blood:	n/a	n/a
4	BHLHE40	chr7:57713294-57713311	K562	blood:	n/a	n/a
5	CEBPB	chr7:57710670-57710870	K562	blood:	n/a	n/a
6	CEBPB	chr7:57708544-57708746	K562	blood:	n/a	n/a
7	CHD2	chr7:57708603-57708917	K562	blood:	n/a	n/a
8	CTCF	chr7:57719041-57719117	GM13976	blood:	n/a	n/a
9	CTCF	chr7:57710890-57711076	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr7:57716097-57716361	K562	blood:	n/a	n/a
11	CTCF	chr7:57710959-57711039	LNCaP	prostate:	n/a	n/a
12	CTCF	chr7:57716100-57716339	K562	blood:	n/a	n/a
13	CTCF	chr7:57716161-57716308	K562	blood:	n/a	n/a
14	CTCF	chr7:57708717-57708744	K562	blood:	n/a	n/a
15	CTCF	chr7:57716068-57716335	K562	blood:	n/a	n/a
16	CTCF	chr7:57712149-57712164	GM10266	blood:	n/a	n/a
17	CTCF	chr7:57719021-57719044	LNCaP	prostate:	n/a	n/a
18	CTCF	chr7:57716120-57716270	WERI-Rb-1	eye:	n/a	n/a
19	CTCF	chr7:57721801-57721856	GM13976	blood:	n/a	n/a
20	CTCF	chr7:57721795-57721862	LNCaP	prostate:	n/a	n/a
21	CTCF	chr7:57716170-57716235	MCF-7	breast:	n/a	n/a
22	CTCF	chr7:57713331-57713346	K562	blood:	n/a	n/a
23	CTCF	chr7:57712170-57712186	GM10266	blood:	n/a	n/a
24	CTCF	chr7:57710833-57711038	K562	blood:	n/a	n/a
25	CUX1	chr7:57708547-57708917	K562	blood:	n/a	n/a
26	E2F6	chr7:57711399-57711517	K562	blood:	n/a	n/a
27	E2F6	chr7:57710869-57711091	K562	blood:	n/a	n/a
28	ELK1	chr7:57708719-57708918	K562	blood:	n/a	n/a
29	EP300	chr7:57710747-57711003	GM12878	blood:	n/a	n/a
30	FOXA1	chr7:57708987-57709144	T-47D	breast:	n/a	n/a
31	HCFC1	chr7:57708709-57708747	K562	blood:	n/a	n/a
32	HCFC1	chr7:57710863-57711040	K562	blood:	n/a	n/a
33	HEY1	chr7:57710659-57711001	K562	blood:	n/a	n/a
34	HEY1	chr7:57708574-57708880	K562	blood:	n/a	n/a
35	HEY1	chr7:57708573-57708861	K562	blood:	n/a	n/a
36	HMGN3	chr7:57710673-57711170	K562	blood:	n/a	n/a
37	JUND	chr7:57708548-57708918	K562	blood:	n/a	n/a
38	JUND	chr7:57710672-57710711	K562	blood:	n/a	n/a
39	KAP1	chr7:57718958-57719299	HEK293	kidney:	n/a	n/a
40	MAFK	chr7:57708548-57708744	K562	blood:	n/a	n/a
41	MAX	chr7:57710844-57711082	K562	blood:	n/a	n/a
42	MAX	chr7:57711331-57711586	K562	blood:	n/a	n/a
43	MAX	chr7:57708551-57708621	HepG2	liver:	n/a	n/a
44	MAZ	chr7:57710672-57710921	K562	blood:	n/a	n/a
45	MAZ	chr7:57708545-57708919	K562	blood:	n/a	n/a
46	MAZ	chr7:57708544-57708592	Hela-S3	cervix:	n/a	n/a
47	MYC	chr7:57708546-57708918	K562	blood:	n/a	n/a
48	NFYB	chr7:57713680-57714131	K562	blood:	n/a	n/a
49	NRF1	chr7:57710799-57711073	K562	blood:	n/a	chr7:57710928-57710939
50	NRF1	chr7:57710596-57711280	SK-N-SH	brain:	n/a	chr7:57710928-57710939

(count:919 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57712687-57712737	HIPEpiC	eye:	n/a
2	chr7:57711465-57711515	GM12878	blood:	n/a
3	chr7:57710136-57710186	HRPEpiC	eye:	n/a
4	chr7:57714285-57714335	HUVEC	blood vessel:	n/a
5	chr7:57712687-57712737	HIPEpiC	eye:	n/a
6	chr7:57711465-57711515	GM12878	blood:	n/a
7	chr7:57710136-57710186	HRPEpiC	eye:	n/a
8	chr7:57714285-57714335	HUVEC	blood vessel:	n/a
9	chr7:57711394-57711444	HCM	heart:	n/a
10	chr7:57710136-57710186	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:57712819-57712869	BJ	skin:	n/a
12	chr7:57714756-57714806	HUVEC	blood vessel:	n/a
13	chr7:57712687-57712737	AG09319	gingival:	n/a
14	chr7:57710136-57710186	U87	brain:	n/a
15	chr7:57714270-57714320	AG10803	skin:	n/a
16	chr7:57714270-57714320	HRPEpiC	eye:	n/a
17	chr7:57715021-57715071	U87	brain:	n/a
18	chr7:57715349-57715399	HCPEpiC	choroid plexus:	n/a
19	chr7:57714756-57714806	Jurkat	blood:	n/a
20	chr7:57712819-57712869	AG09319	gingival:	n/a
21	chr7:57712753-57712803	HCPEpiC	choroid plexus:	n/a
22	chr7:57710136-57710186	AoSMC	blood vessel:	n/a
23	chr7:57712819-57712869	NT2-D1	testis:	n/a
24	chr7:57710252-57710302	HCPEpiC	choroid plexus:	n/a
25	chr7:57713841-57713891	GM06990	blood:	n/a
26	chr7:57714756-57714806	SK-N-SH	brain:	n/a
27	chr7:57710252-57710302	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:57714385-57714435	NH-A	brain:	n/a
29	chr7:57711465-57711515	H1-hESC	embryonic stem cell:	embryo
30	chr7:57710785-57710835	HPAEpiC	pulmonary alveolar:	n/a
31	chr7:57714285-57714335	HIPEpiC	eye:	n/a
32	chr7:57712819-57712869	NHDF-neo	bronchial:	n/a
33	chr7:57710252-57710302	HNPCEpiC	eye:	n/a
34	chr7:57711465-57711515	ProgFib	skin:	n/a
35	chr7:57712687-57712737	PANC-1	pancreas:	n/a
36	chr7:57714270-57714320	HCM	heart:	n/a
37	chr7:57712753-57712803	Caco-2	colon:	n/a
38	chr7:57715021-57715071	AoSMC	blood vessel:	n/a
39	chr7:57712687-57712737	HCM	heart:	n/a
40	chr7:57712753-57712803	AG09309	skin:	n/a
41	chr7:57712687-57712737	SK-N-SH	brain:	n/a
42	chr7:57710252-57710302	T-47D	breast:	n/a
43	chr7:57712753-57712803	NH-A	brain:	n/a
44	chr7:57715021-57715071	LNCaP	prostate:	n/a
45	chr7:57714385-57714435	HEK293	kidney:	embryo
46	chr7:57714285-57714335	Caco-2	colon:	n/a
47	chr7:57710136-57710186	MCF-7	breast:	n/a
48	chr7:57714285-57714335	HMEC	breast:	n/a
49	chr7:57711465-57711515	HEEpiC	esophagus:	n/a
50	chr7:57712819-57712869	MCF10A-Er-Src	breast:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-7	chr7:57710227-57710560	NONHSAT120861

No data

Variant related genes	Relation type
ENSG00000237639	TF binding region
ENSG00000234085	TF binding region
ENSG00000233962	TF binding region
ENSG00000243981	TF binding region
ENSG00000236261	TF binding region
ENSG00000230796	TF binding region
ENSG00000237639	CpG island
ENSG00000234085	CpG island
ENSG00000233962	CpG island
ENSG00000243981	CpG island
ENSG00000236261	CpG island
ENSG00000230796	CpG island

Extended variants
information (count: 892 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:892 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557322308	chr7:57708044-57708045	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs10275980	chr7:57708051-57708052	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536653444	chr7:57708066-57708067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555206816	chr7:57708070-57708071	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75814147	chr7:57708073-57708074	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs67251180	chr7:57708078-57708079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74823679	chr7:57708083-57708084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541197080	chr7:57708102-57708103	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376506164	chr7:57708107-57708108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80160550	chr7:57708126-57708127	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574735843	chr7:57708193-57708194	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372085111	chr7:57708194-57708195	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs77431614	chr7:57708202-57708203	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200470591	chr7:57708244-57708245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79302683	chr7:57708248-57708249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572491446	chr7:57708251-57708252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7790175	chr7:57708252-57708253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200428305	chr7:57708263-57708264	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201739956	chr7:57708268-57708269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs180839216	chr7:57708269-57708270	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531707205	chr7:57708277-57708278	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550216314	chr7:57708282-57708283	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147642820	chr7:57708294-57708295	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529589986	chr7:57708299-57708300	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547968850	chr7:57708302-57708303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566184166	chr7:57708316-57708317	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72501613	chr7:57708326-57708327	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112356984	chr7:57708351-57708352	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111548406	chr7:57708367-57708368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540034203	chr7:57708369-57708370	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551014949	chr7:57708405-57708406	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569434486	chr7:57708411-57708412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199518108	chr7:57708427-57708428	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536634129	chr7:57708434-57708435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73702829	chr7:57708442-57708443	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377302477	chr7:57708446-57708447	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554972571	chr7:57708453-57708454	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145988112	chr7:57708455-57708456	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs68045513	chr7:57708469-57708470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73113622	chr7:57708490-57708491	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs77670350	chr7:57708504-57708505	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73113623	chr7:57708511-57708512	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs66472249	chr7:57708541-57708542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78039810	chr7:57708550-57708551	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs76103512	chr7:57708552-57708553	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs78002473	chr7:57708560-57708561	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs78669012	chr7:57708563-57708564	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs534650194	chr7:57708565-57708566	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs553239314	chr7:57708569-57708570	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
50	rs577714083	chr7:57708570-57708571	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Esophageal squamous carcinoma	21637470	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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57705800-57710200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:57705800-57716600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:57706000-57715600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:57706400-57713800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:57707200-57708600	Weak transcription	K562	blood
6	chr7:57707400-57711000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
7	chr7:57708400-57709400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr7:57708400-57710200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
9	chr7:57708400-57712200	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr7:57708600-57709000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:57708600-57709000	Active TSS	K562	blood
12	chr7:57708600-57711600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr7:57708600-57711600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
14	chr7:57709000-57709800	Weak transcription	K562	blood
15	chr7:57709400-57711600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
16	chr7:57709800-57710000	Enhancers	K562	blood
17	chr7:57710000-57710400	Weak transcription	K562	blood
18	chr7:57710400-57710600	Enhancers	K562	blood
19	chr7:57710600-57710800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
20	chr7:57710600-57711000	Flanking Active TSS	K562	blood
21	chr7:57710600-57711600	ZNF genes & repeats	Gastric	stomach
22	chr7:57710600-57711600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
23	chr7:57711000-57711200	Enhancers	K562	blood
24	chr7:57711000-57714400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:57711200-57711800	Weak transcription	K562	blood
26	chr7:57711200-57714200	ZNF genes & repeats	Pancreas	Pancrea
27	chr7:57711600-57712600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
28	chr7:57711800-57712000	Enhancers	K562	blood
29	chr7:57714200-57715000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links