Variant report

Variant	esv3478277
Chromosome Location	chr7:57708954-57711422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:57710672-57710854	K562	blood:	n/a	n/a
2	CEBPB	chr7:57710670-57710870	K562	blood:	n/a	n/a
3	CTCF	chr7:57710890-57711076	SK-N-SH_RA	brain:	n/a	n/a
4	CTCF	chr7:57710959-57711039	LNCaP	prostate:	n/a	n/a
5	CTCF	chr7:57710833-57711038	K562	blood:	n/a	n/a
6	E2F6	chr7:57711399-57711517	K562	blood:	n/a	n/a
7	E2F6	chr7:57710869-57711091	K562	blood:	n/a	n/a
8	EP300	chr7:57710747-57711003	GM12878	blood:	n/a	n/a
9	FOXA1	chr7:57708987-57709144	T-47D	breast:	n/a	n/a
10	HCFC1	chr7:57710863-57711040	K562	blood:	n/a	n/a
11	HEY1	chr7:57710659-57711001	K562	blood:	n/a	n/a
12	HMGN3	chr7:57710673-57711170	K562	blood:	n/a	n/a
13	JUND	chr7:57710672-57710711	K562	blood:	n/a	n/a
14	MAX	chr7:57711331-57711586	K562	blood:	n/a	n/a
15	MAX	chr7:57710844-57711082	K562	blood:	n/a	n/a
16	MAZ	chr7:57710672-57710921	K562	blood:	n/a	n/a
17	NRF1	chr7:57710799-57711073	K562	blood:	n/a	chr7:57710928-57710939
18	NRF1	chr7:57710596-57711280	SK-N-SH	brain:	n/a	chr7:57710928-57710939
19	PAX5	chr7:57710767-57710959	GM12878	blood:	n/a	n/a
20	PAX5	chr7:57710547-57710929	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:57710892-57710896	K562	blood:	n/a	n/a
22	POLR2A	chr7:57710867-57710891	K562	blood:	n/a	n/a
23	RCOR1	chr7:57710798-57711033	K562	blood:	n/a	n/a
24	REST	chr7:57710617-57711032	PANC-1	pancreas:	n/a	n/a
25	SMC3	chr7:57710871-57711033	K562	blood:	n/a	n/a
26	TCF3	chr7:57710579-57710975	GM12878	blood:	n/a	n/a
27	THAP1	chr7:57710886-57711002	K562	blood:	n/a	n/a
28	USF1	chr7:57711369-57711561	HepG2	liver:	n/a	chr7:57711480-57711491
29	USF1	chr7:57711358-57711561	SK-N-SH_RA	brain:	n/a	chr7:57711480-57711491
30	ZBTB33	chr7:57710822-57711085	K562	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57711394-57711444	HEK293	kidney:	embryo
2	chr7:57710785-57710835	SK-N-SH	brain:	n/a
3	chr7:57710136-57710186	Hela-S3	cervix:	n/a
4	chr7:57710252-57710302	HAEpiC	amniotic membrane:	n/a
5	chr7:57710136-57710186	BE2_C	brain:	n/a
6	chr7:57710785-57710835	HEEpiC	esophagus:	n/a
7	chr7:57711394-57711444	HCT-116	colon:	n/a
8	chr7:57710136-57710186	NB4	blood:	n/a
9	chr7:57710252-57710302	BE2_C	brain:	n/a
10	chr7:57711394-57711444	BE2_C	brain:	n/a
11	chr7:57711394-57711444	SKMC	muscle:	n/a
12	chr7:57710785-57710835	NT2-D1	testis:	n/a
13	chr7:57711394-57711444	AG09309	skin:	n/a
14	chr7:57710252-57710302	PANC-1	pancreas:	n/a
15	chr7:57710785-57710835	SAEC	small airway:	n/a
16	chr7:57710136-57710186	RPTEC	kidney:	n/a
17	chr7:57710785-57710835	AG09309	skin:	n/a
18	chr7:57710785-57710835	HRE	kidney:	n/a
19	chr7:57711394-57711444	RPTEC	kidney:	n/a
20	chr7:57710136-57710186	NH-A	brain:	n/a
21	chr7:57710785-57710835	AG04450	lung:	fetal
22	chr7:57710252-57710302	H1-hESC	embryonic stem cell:	embryo
23	chr7:57711394-57711444	U87	brain:	n/a
24	chr7:57710785-57710835	SKMC	muscle:	n/a
25	chr7:57711394-57711444	HCF	heart:	n/a
26	chr7:57710252-57710302	GM12892	blood:	n/a
27	chr7:57710136-57710186	HUVEC	blood vessel:	n/a
28	chr7:57711394-57711444	MCF-7	breast:	n/a
29	chr7:57711394-57711444	SAEC	small airway:	n/a
30	chr7:57710785-57710835	Hepatocyte	liver:	n/a
31	chr7:57710785-57710835	GM12891	blood:	n/a
32	chr7:57710252-57710302	GM12891	blood:	n/a
33	chr7:57710136-57710186	T-47D	breast:	n/a
34	chr7:57710785-57710835	PrEC	prostate:	n/a
35	chr7:57710785-57710835	HEK293	kidney:	embryo
36	chr7:57710252-57710302	PrEC	prostate:	n/a
37	chr7:57710252-57710302	SK-N-SH_RA	brain:	n/a
38	chr7:57711394-57711444	HEEpiC	esophagus:	n/a
39	chr7:57711394-57711444	K562	blood:	n/a
40	chr7:57710252-57710302	HRE	kidney:	n/a
41	chr7:57710136-57710186	LNCaP	prostate:	n/a
42	chr7:57710136-57710186	HNPCEpiC	eye:	n/a
43	chr7:57711394-57711444	AG10803	skin:	n/a
44	chr7:57711394-57711444	HRPEpiC	eye:	n/a
45	chr7:57710136-57710186	BJ	skin:	n/a
46	chr7:57710136-57710186	PFSK-1	brain:	n/a
47	chr7:57710252-57710302	NH-A	brain:	n/a
48	chr7:57710785-57710835	Hela-S3	cervix:	n/a
49	chr7:57711394-57711444	SK-N-MC	brain:	n/a
50	chr7:57710785-57710835	HCPEpiC	choroid plexus:	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
ENSG00000243981	TF binding region
ENSG00000236261	TF binding region
ENSG00000230796	TF binding region
ENSG00000237639	CpG island
ENSG00000234085	CpG island
ENSG00000243981	CpG island
ENSG00000236261	CpG island
ENSG00000230796	CpG island

Extended variants
information (count: 263 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:263 , 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	rs189900881	chr7:57708954-57708955	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559761804	chr7:57708972-57708973	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148850679	chr7:57708980-57708981	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs533473638	chr7:57708999-57709000	ZNF genes & repeats Active TSS	TF binding region	3 gene(s)	Overlapped CNVs	n/a
5	rs545193605	chr7:57709001-57709002	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
6	rs370163977	chr7:57709003-57709004	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
7	rs111866034	chr7:57709010-57709011	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
8	rs371772829	chr7:57709018-57709019	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
9	rs563578956	chr7:57709024-57709025	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
10	rs386713691	chr7:57709027-57709028	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
11	rs73113628	chr7:57709028-57709029	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
12	rs79913695	chr7:57709029-57709030	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
13	rs548755068	chr7:57709033-57709034	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
14	rs72501617	chr7:57709051-57709052	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
15	rs72501618	chr7:57709063-57709064	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
16	rs567375063	chr7:57709070-57709071	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
17	rs78887470	chr7:57709098-57709099	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
18	rs528037438	chr7:57709109-57709110	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
19	rs76362575	chr7:57709115-57709116	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
20	rs386713692	chr7:57709120-57709121	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
21	rs7784828	chr7:57709129-57709130	ZNF genes & repeats Weak transcription	TF binding region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74647367	chr7:57709149-57709150	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76428658	chr7:57709152-57709153	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538982520	chr7:57709159-57709160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367648641	chr7:57709174-57709175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73113630	chr7:57709185-57709186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569032893	chr7:57709206-57709207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73113631	chr7:57709212-57709213	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77848498	chr7:57709225-57709226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79521576	chr7:57709227-57709228	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147819798	chr7:57709237-57709238	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140339472	chr7:57709239-57709240	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74643742	chr7:57709240-57709241	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs78087010	chr7:57709242-57709243	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75575331	chr7:57709284-57709285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181178240	chr7:57709287-57709288	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79884330	chr7:57709295-57709296	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77085769	chr7:57709298-57709299	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76625600	chr7:57709302-57709303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569491361	chr7:57709337-57709338	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112068887	chr7:57709340-57709341	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113046899	chr7:57709343-57709344	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375701136	chr7:57709367-57709368	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73358806	chr7:57709395-57709396	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553378349	chr7:57709401-57709402	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374324316	chr7:57709430-57709431	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77317365	chr7:57709432-57709433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78472736	chr7:57709434-57709435	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74419023	chr7:57709438-57709439	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73358809	chr7:57709440-57709441	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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

Chromatin state (count:25 , 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	chr7:57707400-57711000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr7:57708400-57709400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr7:57708400-57710200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
8	chr7:57708400-57712200	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr7:57708600-57709000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:57708600-57709000	Active TSS	K562	blood
11	chr7:57708600-57711600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
12	chr7:57708600-57711600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr7:57709000-57709800	Weak transcription	K562	blood
14	chr7:57709400-57711600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
15	chr7:57709800-57710000	Enhancers	K562	blood
16	chr7:57710000-57710400	Weak transcription	K562	blood
17	chr7:57710400-57710600	Enhancers	K562	blood
18	chr7:57710600-57710800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr7:57710600-57711000	Flanking Active TSS	K562	blood
20	chr7:57710600-57711600	ZNF genes & repeats	Gastric	stomach
21	chr7:57710600-57711600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
22	chr7:57711000-57711200	Enhancers	K562	blood
23	chr7:57711000-57714400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:57711200-57711800	Weak transcription	K562	blood
25	chr7:57711200-57714200	ZNF genes & repeats	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links