Variant report

Variant	nsv522107
Chromosome Location	chr7:99300758-99314986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
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	ARID3A	chr7:99311722-99312000	K562	blood:	n/a	n/a
2	CEBPB	chr7:99311647-99311995	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr7:99313496-99313508	GM13976	blood:	n/a	n/a
4	CTCF	chr7:99311659-99311790	K562	blood:	n/a	n/a
5	CTCF	chr7:99307977-99307985	MCF-7	breast:	n/a	n/a
6	CTCF	chr7:99311634-99311835	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr7:99311560-99311710	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr7:99311664-99311782	LNCaP	prostate:	n/a	n/a
9	E2F4	chr7:99302958-99303015	GM12878	blood:	n/a	n/a
10	EBF1	chr7:99308519-99308682	GM12878	blood:	n/a	chr7:99308607-99308616 chr7:99308607-99308617 chr7:99308604-99308617 chr7:99308605-99308618
11	FOS	chr7:99307865-99308031	MCF10A-Er-Src	breast:	n/a	chr7:99307952-99307964
12	FOS	chr7:99307795-99308141	MCF10A-Er-Src	breast:	n/a	chr7:99307952-99307964
13	FOS	chr7:99307802-99308123	MCF10A-Er-Src	breast:	n/a	chr7:99307952-99307964
14	FOS	chr7:99307859-99308125	MCF10A-Er-Src	breast:	n/a	chr7:99307952-99307964
15	GATA1	chr7:99311478-99312186	PBDE	blood:	n/a	chr7:99311982-99311991
16	GATA2	chr7:99311441-99312012	HUVEC	blood vessel:	n/a	chr7:99311899-99311913 chr7:99311982-99311991
17	GATA3	chr7:99311757-99312125	MCF-7	breast:	n/a	chr7:99311982-99311991
18	JUND	chr7:99311853-99312091	K562	blood:	n/a	chr7:99311982-99311993 chr7:99311979-99311991 chr7:99311981-99311989
19	MYC	chr7:99307797-99308095	MCF10A-Er-Src	breast:	n/a	n/a
20	MYC	chr7:99307852-99308058	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:99306713-99306756	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr7:99303982-99303996	A549	lung:	n/a	n/a
23	RAD21	chr7:99311633-99311853	HepG2	liver:	n/a	n/a
24	RAD21	chr7:99311574-99311964	Hela-S3	cervix:	n/a	n/a
25	SMC3	chr7:99311618-99311675	K562	blood:	n/a	n/a
26	SMC3	chr7:99311601-99311910	Hela-S3	cervix:	n/a	n/a
27	TAL1	chr7:99313824-99313831	K562	blood:	n/a	n/a
28	TCF7L2	chr7:99311577-99312099	Hela-S3	cervix:	n/a	n/a
29	ZC3H11A	chr7:99311588-99311619	K562	blood:	n/a	n/a
30	ZNF143	chr7:99304903-99304974	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:99302981-99303031	IMR90	lung:	fetal
2	chr7:99302981-99303031	GM12878	blood:	n/a
3	chr7:99302981-99303031	PrEC	prostate:	n/a
4	chr7:99302981-99303031	HRPEpiC	eye:	n/a
5	chr7:99302981-99303031	HEK293	kidney:	embryo
6	chr7:99302981-99303031	GM12892	blood:	n/a
7	chr7:99302981-99303031	NH-A	brain:	n/a
8	chr7:99302981-99303031	ECC-1	luminal epithelium:	n/a
9	chr7:99302981-99303031	HEEpiC	esophagus:	n/a
10	chr7:99302981-99303031	NT2-D1	testis:	n/a
11	chr7:99302981-99303031	GM12891	blood:	n/a
12	chr7:99302981-99303031	PANC-1	pancreas:	n/a
13	chr7:99302981-99303031	AoSMC	blood vessel:	n/a
14	chr7:99302981-99303031	AG09309	skin:	n/a
15	chr7:99302981-99303031	MCF-7	breast:	n/a
16	chr7:99302981-99303031	SAEC	small airway:	n/a
17	chr7:99302981-99303031	HCM	heart:	n/a
18	chr7:99302981-99303031	ovcar-3	ovarian:	n/a
19	chr7:99302981-99303031	HUVEC	blood vessel:	n/a
20	chr7:99302981-99303031	HAEpiC	amniotic membrane:	n/a
21	chr7:99302981-99303031	BE2_C	brain:	n/a
22	chr7:99302981-99303031	HepG2	liver:	n/a
23	chr7:99302981-99303031	K562	blood:	n/a
24	chr7:99302981-99303031	SK-N-SH	brain:	n/a
25	chr7:99302981-99303031	RPTEC	kidney:	n/a
26	chr7:99302981-99303031	SKMC	muscle:	n/a
27	chr7:99302981-99303031	Caco-2	colon:	n/a
28	chr7:99302981-99303031	HIPEpiC	eye:	n/a
29	chr7:99302981-99303031	SK-N-MC	brain:	n/a
30	chr7:99302981-99303031	AG04449	skin:	fetal
31	chr7:99302981-99303031	LNCaP	prostate:	n/a
32	chr7:99302981-99303031	HNPCEpiC	eye:	n/a
33	chr7:99302981-99303031	Hepatocyte	liver:	n/a
34	chr7:99302981-99303031	HPAEpiC	pulmonary alveolar:	n/a
35	chr7:99302981-99303031	HCPEpiC	choroid plexus:	n/a
36	chr7:99302981-99303031	HMEC	breast:	n/a
37	chr7:99302981-99303031	NB4	blood:	n/a
38	chr7:99302981-99303031	T-47D	breast:	n/a
39	chr7:99302981-99303031	NHDF-neo	bronchial:	n/a
40	chr7:99302981-99303031	AG04450	lung:	fetal
41	chr7:99302981-99303031	A549	lung:	n/a
42	chr7:99302981-99303031	PFSK-1	brain:	n/a
43	chr7:99302981-99303031	HRE	kidney:	n/a
44	chr7:99302981-99303031	AG09319	gingival:	n/a
45	chr7:99302981-99303031	HRCEpiC	kidney:	n/a
46	chr7:99302981-99303031	NHBE	bronchial:	n/a
47	chr7:99302981-99303031	HCT-116	colon:	n/a
48	chr7:99302981-99303031	Hela-S3	cervix:	n/a
49	chr7:99302981-99303031	GM19239	blood:	n/a
50	chr7:99302981-99303031	GM06990	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99299012..99301663-chr7:99302830..99305299,2	K562	blood:
2	chr7:99301150..99304477-chr7:99306434..99308951,3	K562	blood:
3	chr7:99307529..99309266-chr7:99310963..99313906,2	K562	blood:
4	chr7:99304648..99307501-chr7:99308738..99311452,2	K562	blood:
5	chr7:99307529..99309266-chr7:99310963..99313906,2	K562	blood:
6	chr7:99301150..99304477-chr7:99306434..99308951,3	K562	blood:
7	chr7:99299012..99301663-chr7:99302830..99305299,2	K562	blood:

No data

Variant related genes	Relation type
CYP3A7	TF binding region
ENSG00000221487	TF binding region
CYP3A7	CpG island
ENSG00000221487	CpG island
ENSG00000221487	chromatin interactions

Extended variants
information (count: 595 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:595 , 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	rs2687081	chr7:99300758-99300759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190452139	chr7:99300760-99300761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556119932	chr7:99300787-99300788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377402217	chr7:99300911-99300912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577653479	chr7:99300982-99300983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs73408573	chr7:99301015-99301016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554252006	chr7:99301016-99301017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551320182	chr7:99301029-99301030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534636523	chr7:99301043-99301044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540445917	chr7:99301091-99301092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2687080	chr7:99301149-99301150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529186676	chr7:99301185-99301186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150353175	chr7:99301211-99301212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs180777350	chr7:99301235-99301236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562465887	chr7:99301245-99301246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11978130	chr7:99301272-99301273	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551147371	chr7:99301280-99301281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75029496	chr7:99301292-99301293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144976082	chr7:99301317-99301318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527853230	chr7:99301468-99301469	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549140634	chr7:99301505-99301506	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs567551369	chr7:99301510-99301511	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538138028	chr7:99301511-99301512	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs185968437	chr7:99301515-99301516	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs571267537	chr7:99301600-99301601	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs563203236	chr7:99301621-99301622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553949898	chr7:99301694-99301695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374888845	chr7:99301725-99301726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572483443	chr7:99301743-99301744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367736070	chr7:99301758-99301759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542789585	chr7:99301802-99301803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34886526	chr7:99301812-99301813	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1522547	chr7:99301874-99301875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149117815	chr7:99301889-99301890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372590479	chr7:99301917-99301918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573930490	chr7:99301940-99301941	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544473027	chr7:99301943-99301944	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367622516	chr7:99301945-99301946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10259330	chr7:99302058-99302059	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs376728712	chr7:99302059-99302060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs138831811	chr7:99302080-99302081	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545008143	chr7:99302087-99302088	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2740563	chr7:99302113-99302114	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs527364684	chr7:99302148-99302149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190085169	chr7:99302169-99302170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567516456	chr7:99302172-99302173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145739959	chr7:99302382-99302383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550028962	chr7:99302415-99302416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182824754	chr7:99302441-99302442	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186088668	chr7:99302443-99302444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
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
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21509527	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Prostate cancer	18632612	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99291400-99306600	Weak transcription	Left Ventricle	heart
2	chr7:99294200-99301600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:99294400-99301400	Weak transcription	Liver	Liver
4	chr7:99297400-99303800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:99297800-99301400	Weak transcription	Fetal Intestine Small	intestine
6	chr7:99297800-99316200	Weak transcription	Gastric	stomach
7	chr7:99297800-99317400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:99298000-99311600	Weak transcription	Pancreas	Pancrea
9	chr7:99298200-99303600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:99301400-99301600	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr7:99301400-99315400	Strong transcription	Liver	Liver
12	chr7:99303200-99318200	Weak transcription	Fetal Heart	heart
13	chr7:99303200-99337200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr7:99303800-99305200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:99304200-99306800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr7:99304600-99305200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr7:99304800-99305000	ZNF genes & repeats	Brain Angular Gyrus	brain
18	chr7:99304800-99305800	Weak transcription	Ovary	ovary
19	chr7:99304800-99318000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr7:99305000-99311400	Weak transcription	Aorta	Aorta
21	chr7:99305200-99305600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:99305200-99306200	ZNF genes & repeats	Brain Anterior Caudate	brain
23	chr7:99305200-99306600	Weak transcription	Primary T cells from cord blood	blood
24	chr7:99305200-99311400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:99305400-99306000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
26	chr7:99305600-99306000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:99305600-99306200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
28	chr7:99305600-99307200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr7:99305600-99307600	Weak transcription	Right Ventricle	heart
30	chr7:99305600-99317600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr7:99305800-99306800	Strong transcription	Ovary	ovary
32	chr7:99305800-99309200	Weak transcription	Brain Angular Gyrus	brain
33	chr7:99306000-99306200	ZNF genes & repeats	Adipose Nuclei	Adipose
34	chr7:99306000-99307200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:99306000-99314600	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:99306000-99339000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:99306200-99307000	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr7:99306200-99307000	Weak transcription	Brain Substantia Nigra	brain
39	chr7:99306200-99317800	Weak transcription	Adipose Nuclei	Adipose
40	chr7:99306600-99307000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:99306600-99307200	Strong transcription	Primary T cells from cord blood	blood
42	chr7:99306600-99307200	Strong transcription	Left Ventricle	heart
43	chr7:99306800-99307400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:99306800-99307800	Weak transcription	Ovary	ovary
45	chr7:99306800-99340800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:99307000-99312200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:99307200-99308200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:99307200-99314200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:99307200-99317200	Weak transcription	Primary T cells from cord blood	blood
50	chr7:99307200-99334400	Weak transcription	Left Ventricle	heart

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