Variant report

Variant	nsv970860
Chromosome Location	chr7:64333925-64338698
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:367)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD2	chr7:64337839-64337927	HepG2	liver:	n/a	n/a
2	JUND	chr7:64335473-64335665	HepG2	liver:	n/a	chr7:64335533-64335544
3	MXI1	chr7:64337369-64338620	SK-N-SH	brain:	n/a	n/a
4	MXI1	chr7:64337852-64338063	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFIC	chr7:64334391-64334930	SK-N-SH	brain:	n/a	n/a
6	NFIC	chr7:64334291-64334969	SK-N-SH	brain:	n/a	n/a
7	NRF1	chr7:64337757-64338107	H1-hESC	embryonic stem cell:	n/a	n/a
8	NRF1	chr7:64337798-64338017	GM12878	blood:	n/a	n/a
9	NRF1	chr7:64337566-64338274	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr7:64337614-64338208	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr7:64337680-64338083	H1-neurons	neurons:	n/a	n/a
12	SIN3A	chr7:64337818-64338171	H1-hESC	embryonic stem cell:	n/a	n/a
13	TCF7L2	chr7:64336966-64337130	Hela-S3	cervix:	n/a	n/a
14	YY1	chr7:64337867-64338202	SK-N-SH_RA	brain:	n/a	n/a
15	YY1	chr7:64337765-64338173	SK-N-SH_RA	brain:	n/a	n/a
16	ZNF143	chr7:64337882-64338123	H1-hESC	embryonic stem cell:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64335660-64335710	BE2_C	brain:	n/a
2	chr7:64335660-64335710	BE2_C	brain:	n/a
3	chr7:64336329-64336379	ECC-1	luminal epithelium:	n/a
4	chr7:64337958-64338008	AG10803	skin:	n/a
5	chr7:64336120-64336170	NHBE	bronchial:	n/a
6	chr7:64337958-64338008	HCM	heart:	n/a
7	chr7:64336709-64336759	Jurkat	blood:	n/a
8	chr7:64338366-64338416	SK-N-SH_RA	brain:	n/a
9	chr7:64336120-64336170	SK-N-MC	brain:	n/a
10	chr7:64336329-64336379	AG04449	skin:	fetal
11	chr7:64336120-64336170	HRPEpiC	eye:	n/a
12	chr7:64336329-64336379	AG09309	skin:	n/a
13	chr7:64335660-64335710	PrEC	prostate:	n/a
14	chr7:64338366-64338416	SKMC	muscle:	n/a
15	chr7:64337958-64338008	SKMC	muscle:	n/a
16	chr7:64336120-64336170	GM12892	blood:	n/a
17	chr7:64336329-64336379	CMK	blood:	n/a
18	chr7:64336120-64336170	H1-hESC	embryonic stem cell:	embryo
19	chr7:64335660-64335710	AG09309	skin:	n/a
20	chr7:64338366-64338416	H1-hESC	embryonic stem cell:	embryo
21	chr7:64335660-64335710	MCF10A-Er-Src	breast:	n/a
22	chr7:64336329-64336379	HUVEC	blood vessel:	n/a
23	chr7:64336120-64336170	HCPEpiC	choroid plexus:	n/a
24	chr7:64336329-64336379	SK-N-MC	brain:	n/a
25	chr7:64335660-64335710	PANC-1	pancreas:	n/a
26	chr7:64337958-64338008	GM12878	blood:	n/a
27	chr7:64336120-64336170	ovcar-3	ovarian:	n/a
28	chr7:64336329-64336379	Hepatocyte	liver:	n/a
29	chr7:64335660-64335710	HCT-116	colon:	n/a
30	chr7:64336709-64336759	GM12892	blood:	n/a
31	chr7:64335660-64335710	AG04449	skin:	fetal
32	chr7:64336329-64336379	HEEpiC	esophagus:	n/a
33	chr7:64336329-64336379	NT2-D1	testis:	n/a
34	chr7:64336709-64336759	T-47D	breast:	n/a
35	chr7:64335660-64335710	MCF-7	breast:	n/a
36	chr7:64336709-64336759	HIPEpiC	eye:	n/a
37	chr7:64336329-64336379	Caco-2	colon:	n/a
38	chr7:64335660-64335710	HIPEpiC	eye:	n/a
39	chr7:64336709-64336759	BE2_C	brain:	n/a
40	chr7:64337958-64338008	HUVEC	blood vessel:	n/a
41	chr7:64336120-64336170	T-47D	breast:	n/a
42	chr7:64337958-64338008	AG04449	skin:	fetal
43	chr7:64336329-64336379	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:64338366-64338416	AG09319	gingival:	n/a
45	chr7:64338366-64338416	GM12891	blood:	n/a
46	chr7:64337958-64338008	HEEpiC	esophagus:	n/a
47	chr7:64338366-64338416	AG04450	lung:	fetal
48	chr7:64335660-64335710	Jurkat	blood:	n/a
49	chr7:64336709-64336759	HRPEpiC	eye:	n/a
50	chr7:64337958-64338008	Jurkat	blood:	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF117-3	chr7:64335204-64335354	NONHSAT121046
2	lnc-ZNF138-1	chr7:64338163-64338208	XLOC_006130
3	lnc-ZNF138-1	chr7:64338038-64338252	NONHSAT121048

No data

Variant related genes	Relation type
ZNF273	TF binding region
ZNF273	CpG island

Extended variants
information (count: 192 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542781221	chr7:64333963-64333964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535406731	chr7:64334000-64334001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190076962	chr7:64334001-64334002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528331709	chr7:64334024-64334025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555720261	chr7:64334026-64334027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551691645	chr7:64334057-64334058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575636977	chr7:64334089-64334090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565227143	chr7:64334099-64334100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78162584	chr7:64334114-64334115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544501567	chr7:64334115-64334116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs884965	chr7:64334148-64334149	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs867630	chr7:64334166-64334167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs540720988	chr7:64334176-64334177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546700476	chr7:64334186-64334187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566705141	chr7:64334228-64334229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538886334	chr7:64334229-64334230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182300157	chr7:64334299-64334300	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs185193274	chr7:64334303-64334304	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs374544443	chr7:64334318-64334319	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs554688135	chr7:64334319-64334320	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs574805797	chr7:64334342-64334343	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs191084253	chr7:64334388-64334389	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs368697515	chr7:64334401-64334402	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs140026438	chr7:64334438-64334439	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs76471515	chr7:64334445-64334446	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545228924	chr7:64334466-64334467	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs143654206	chr7:64334489-64334490	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs73699601	chr7:64334521-64334522	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550519874	chr7:64334580-64334581	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs151279261	chr7:64334634-64334635	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs184173536	chr7:64334652-64334653	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs529725469	chr7:64334656-64334657	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs546279921	chr7:64334695-64334696	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs369994326	chr7:64334697-64334698	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs146927204	chr7:64334698-64334699	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs532522139	chr7:64334716-64334717	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs542586412	chr7:64334717-64334718	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs373751494	chr7:64334738-64334739	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs569181804	chr7:64334782-64334783	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs538135657	chr7:64334827-64334828	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs202072340	chr7:64334844-64334845	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs371690478	chr7:64334930-64334931	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs140815567	chr7:64334962-64334963	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs534248337	chr7:64334995-64334996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149727166	chr7:64335013-64335014	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs577426911	chr7:64335015-64335016	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7805112	chr7:64335029-64335030	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551649548	chr7:64335060-64335061	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12667282	chr7:64335107-64335108	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs575422202	chr7:64335114-64335115	ZNF genes & repeats Enhancers	n/a	n/a	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64333200-64335000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:64334000-64335800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:64334200-64334400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:64334200-64335200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:64334400-64334800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:64334400-64335200	Enhancers	Osteobl	bone
7	chr7:64334600-64335000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:64334600-64335000	Enhancers	Dnd41	blood
9	chr7:64334800-64335200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:64335000-64335600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:64335200-64337000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:64335800-64337400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:64336600-64337000	Active TSS	Brain Cingulate Gyrus	brain
14	chr7:64337000-64337200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:64337000-64337400	Enhancers	Brain Cingulate Gyrus	brain
16	chr7:64337200-64337400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:64337200-64337400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr7:64337200-64337400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:64337200-64337400	Enhancers	Brain Anterior Caudate	brain
20	chr7:64337200-64337400	Active TSS	Brain Substantia Nigra	brain
21	chr7:64337200-64337400	Enhancers	Colon Smooth Muscle	Colon
22	chr7:64337200-64337400	Enhancers	Fetal Brain Female	brain
23	chr7:64337200-64337400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
24	chr7:64337200-64337600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr7:64337200-64338000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:64337200-64338600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr7:64337400-64337600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:64337400-64337600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr7:64337400-64337600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr7:64337400-64337600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr7:64337400-64337600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr7:64337400-64337600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:64337400-64337600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:64337400-64337600	Enhancers	Adipose Nuclei	Adipose
35	chr7:64337400-64337600	Enhancers	Fetal Brain Male	brain
36	chr7:64337400-64337600	Enhancers	Fetal Heart	heart
37	chr7:64337400-64337600	Enhancers	Fetal Muscle Leg	muscle
38	chr7:64337400-64337600	Enhancers	Pancreas	Pancrea
39	chr7:64337400-64337600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr7:64337400-64337600	Active TSS	Stomach Smooth Muscle	stomach
41	chr7:64337400-64337800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:64337400-64337800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:64337400-64337800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
44	chr7:64337400-64337800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:64337400-64337800	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr7:64337400-64337800	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr7:64337400-64337800	Flanking Active TSS	Brain Substantia Nigra	brain
48	chr7:64337400-64337800	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr7:64337400-64337800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr7:64337400-64338000	Flanking Active TSS	Fetal Brain Female	brain

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