Variant report

Variant	nsv933960
Chromosome Location	chr7:33192013-33195135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:33193562-33193784	K562	blood:	n/a	n/a
2	CTCF	chr7:33194163-33194193	Fibrobl	skin:	n/a	n/a
3	GATA2	chr7:33191616-33192081	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr7:33191486-33192233	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr7:33191567-33192235	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr7:33191633-33192110	SH-SY5Y	brain:	n/a	n/a
7	JUN	chr7:33193578-33193869	HepG2	liver:	n/a	chr7:33193704-33193713 chr7:33193703-33193716
8	JUND	chr7:33193577-33193830	HepG2	liver:	n/a	chr7:33193704-33193713
9	POLR2A	chr7:33193013-33193186	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr7:33194120-33194319	MCF-7	breast:	n/a	n/a
11	STAT3	chr7:33194903-33195092	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:33194031-33194081	HIPEpiC	eye:	n/a
2	chr7:33194031-33194081	HEEpiC	esophagus:	n/a
3	chr7:33194031-33194081	HRE	kidney:	n/a
4	chr7:33194031-33194081	Hela-S3	cervix:	n/a
5	chr7:33194031-33194081	NT2-D1	testis:	n/a
6	chr7:33194031-33194081	GM06990	blood:	n/a
7	chr7:33194031-33194081	NHBE	bronchial:	n/a
8	chr7:33194031-33194081	AoSMC	blood vessel:	n/a
9	chr7:33194031-33194081	BJ	skin:	n/a
10	chr7:33194031-33194081	BE2_C	brain:	n/a
11	chr7:33194031-33194081	GM12892	blood:	n/a
12	chr7:33194031-33194081	Caco-2	colon:	n/a
13	chr7:33194031-33194081	SAEC	small airway:	n/a
14	chr7:33194031-33194081	HRCEpiC	kidney:	n/a
15	chr7:33194031-33194081	HRPEpiC	eye:	n/a
16	chr7:33194031-33194081	HMEC	breast:	n/a
17	chr7:33194031-33194081	ECC-1	luminal epithelium:	n/a
18	chr7:33194031-33194081	PrEC	prostate:	n/a
19	chr7:33194031-33194081	HCPEpiC	choroid plexus:	n/a
20	chr7:33194031-33194081	HAEpiC	amniotic membrane:	n/a
21	chr7:33194031-33194081	HCM	heart:	n/a
22	chr7:33194031-33194081	LNCaP	prostate:	n/a
23	chr7:33194031-33194081	GM12891	blood:	n/a
24	chr7:33194031-33194081	GM19239	blood:	n/a
25	chr7:33194031-33194081	A549	lung:	n/a
26	chr7:33194031-33194081	HepG2	liver:	n/a
27	chr7:33194031-33194081	SK-N-MC	brain:	n/a
28	chr7:33194031-33194081	H1-hESC	embryonic stem cell:	embryo
29	chr7:33194031-33194081	AG10803	skin:	n/a
30	chr7:33194031-33194081	HCF	heart:	n/a
31	chr7:33194031-33194081	Hepatocyte	liver:	n/a
32	chr7:33194031-33194081	ProgFib	skin:	n/a
33	chr7:33194031-33194081	SK-N-SH	brain:	n/a
34	chr7:33194031-33194081	AG09309	skin:	n/a
35	chr7:33194031-33194081	K562	blood:	n/a
36	chr7:33194031-33194081	HEK293	kidney:	embryo
37	chr7:33194031-33194081	HPAEpiC	pulmonary alveolar:	n/a
38	chr7:33194031-33194081	U87	brain:	n/a
39	chr7:33194031-33194081	NH-A	brain:	n/a
40	chr7:33194031-33194081	MCF-7	breast:	n/a
41	chr7:33194031-33194081	PFSK-1	brain:	n/a
42	chr7:33194031-33194081	CMK	blood:	n/a
43	chr7:33194031-33194081	HL-60	blood:	n/a
44	chr7:33194031-33194081	RPTEC	kidney:	n/a
45	chr7:33194031-33194081	SKMC	muscle:	n/a
46	chr7:33194031-33194081	MCF10A-Er-Src	breast:	n/a
47	chr7:33194031-33194081	PANC-1	pancreas:	n/a
48	chr7:33194031-33194081	AG04449	skin:	fetal
49	chr7:33194031-33194081	HNPCEpiC	eye:	n/a
50	chr7:33194031-33194081	ovcar-3	ovarian:	n/a

No data

Variant related genes	Relation type
BBS9	TF binding region
BBS9	CpG island

Extended variants
information (count: 125 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147713983	chr7:33192027-33192028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs529157269	chr7:33192030-33192031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142575399	chr7:33192031-33192032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552815091	chr7:33192035-33192036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146902612	chr7:33192116-33192117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1406606	chr7:33192166-33192167	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs139401222	chr7:33192201-33192202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371505366	chr7:33192227-33192228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186038329	chr7:33192237-33192238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568886417	chr7:33192252-33192253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35872534	chr7:33192277-33192278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538470220	chr7:33192288-33192289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543714605	chr7:33192299-33192300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs62449324	chr7:33192302-33192303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145241295	chr7:33192338-33192339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148812031	chr7:33192374-33192375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373063776	chr7:33192395-33192396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200845910	chr7:33192398-33192399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375757123	chr7:33192405-33192406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376183075	chr7:33192411-33192412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370508659	chr7:33192435-33192436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377626008	chr7:33192449-33192450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs137962929	chr7:33192464-33192465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370916293	chr7:33192467-33192468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374383847	chr7:33192476-33192477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113260332	chr7:33192493-33192494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368821728	chr7:33192496-33192497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111473409	chr7:33192497-33192498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17169881	chr7:33192502-33192503	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs374140910	chr7:33192504-33192505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549303303	chr7:33192518-33192519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567428001	chr7:33192554-33192555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534533649	chr7:33192562-33192563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10241188	chr7:33192591-33192592	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34249217	chr7:33192600-33192601	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538386059	chr7:33192686-33192687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534452254	chr7:33192729-33192730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556497321	chr7:33192739-33192740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190845881	chr7:33192751-33192752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115043706	chr7:33192766-33192767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575007740	chr7:33192777-33192778	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs17473365	chr7:33192800-33192801	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs12536300	chr7:33192837-33192838	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs143449253	chr7:33192870-33192871	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147998007	chr7:33192881-33192882	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141692610	chr7:33192884-33192885	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563627915	chr7:33193125-33193126	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs10270961	chr7:33193141-33193142	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542908905	chr7:33193165-33193166	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs539540410	chr7:33193234-33193235	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21935476	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Williams-beuren syndrome	18553513	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33170200-33205800	Weak transcription	Aorta	Aorta
2	chr7:33171200-33196200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:33171200-33205800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr7:33171200-33206600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:33176400-33206000	Weak transcription	Liver	Liver
6	chr7:33177200-33193200	Weak transcription	Ovary	ovary
7	chr7:33179600-33195000	Weak transcription	Fetal Brain Male	brain
8	chr7:33182400-33193200	Weak transcription	Primary T cells from cord blood	blood
9	chr7:33182400-33210200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr7:33182800-33205600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:33184600-33205800	Weak transcription	Fetal Lung	lung
12	chr7:33184800-33217200	Weak transcription	Brain Hippocampus Middle	brain
13	chr7:33185000-33205800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:33185200-33196200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:33185400-33196400	Weak transcription	Brain Substantia Nigra	brain
16	chr7:33185400-33196800	Weak transcription	Brain Anterior Caudate	brain
17	chr7:33185400-33218000	Weak transcription	Brain Angular Gyrus	brain
18	chr7:33185600-33205600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:33185600-33224000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:33187000-33196400	Weak transcription	Adipose Nuclei	Adipose
21	chr7:33189000-33197200	Weak transcription	HSMMtube	muscle
22	chr7:33189200-33206800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:33190000-33217600	Weak transcription	Left Ventricle	heart
24	chr7:33190200-33230400	Weak transcription	Gastric	stomach
25	chr7:33190400-33197400	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:33190600-33192400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:33190800-33194800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:33191200-33193600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr7:33191400-33205800	Weak transcription	Fetal Intestine Large	intestine
30	chr7:33191600-33205800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr7:33191800-33196600	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:33191800-33199600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:33192000-33192800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:33192000-33197400	Weak transcription	Fetal Heart	heart
35	chr7:33192000-33205600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:33192200-33195600	Weak transcription	Fetal Kidney	kidney
37	chr7:33192200-33199800	Weak transcription	Primary B cells from cord blood	blood
38	chr7:33192400-33195800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:33192600-33205000	Weak transcription	Fetal Stomach	stomach
40	chr7:33192800-33195200	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:33192800-33196000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:33193000-33193600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr7:33193000-33193800	Enhancers	Osteobl	bone
44	chr7:33193000-33196600	Weak transcription	Small Intestine	intestine
45	chr7:33193000-33205600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:33193200-33194600	Strong transcription	Ovary	ovary
47	chr7:33193200-33195000	Enhancers	NHDF-Ad	bronchial
48	chr7:33193200-33197600	Strong transcription	Primary T cells from cord blood	blood
49	chr7:33193400-33193600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:33193400-33193800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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