Variant report

Variant	nsv966945
Chromosome Location	chr3:78990076-78992480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr3:78990723-78990977	GM12878	blood:	n/a	chr3:78990802-78990813
2	BCL11A	chr3:78990702-78990921	GM12878	blood:	n/a	n/a
3	CEBPB	chr3:78990748-78991236	IMR90	lung:	n/a	chr3:78991034-78991047
4	FAM48A	chr3:78991756-78991800	GM12878	blood:	n/a	n/a
5	FOS	chr3:78990653-78991125	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr3:78990499-78991169	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr3:78990564-78991163	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr3:78990390-78991169	MCF10A-Er-Src	breast:	n/a	n/a
9	KAP1	chr3:78990605-78991152	U2OS	brain:	n/a	n/a
10	KAP1	chr3:78990621-78991123	HEK293	kidney:	n/a	n/a
11	MAX	chr3:78991438-78991518	HepG2	liver:	n/a	n/a
12	MYC	chr3:78990828-78991195	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr3:78990832-78990990	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr3:78989798-78990571	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr3:78990703-78990985	MCF10A-Er-Src	breast:	n/a	n/a
16	RCOR1	chr3:78990353-78991709	IMR90	lung:	n/a	n/a
17	STAT3	chr3:78990870-78991064	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr3:78990724-78991046	MCF10A-Er-Src	breast:	n/a	n/a
19	WRNIP1	chr3:78991117-78991235	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:78990780-78990830	RPTEC	kidney:	n/a
2	chr3:78990780-78990830	ProgFib	skin:	n/a
3	chr3:78990780-78990830	HCF	heart:	n/a
4	chr3:78990780-78990830	HAEpiC	amniotic membrane:	n/a
5	chr3:78990780-78990830	Caco-2	colon:	n/a
6	chr3:78990780-78990830	HCT-116	colon:	n/a
7	chr3:78990780-78990830	ECC-1	luminal epithelium:	n/a
8	chr3:78990780-78990830	AG04450	lung:	fetal
9	chr3:78990780-78990830	AoSMC	blood vessel:	n/a
10	chr3:78990780-78990830	LNCaP	prostate:	n/a
11	chr3:78990780-78990830	GM06990	blood:	n/a
12	chr3:78990780-78990830	T-47D	breast:	n/a
13	chr3:78990780-78990830	ovcar-3	ovarian:	n/a
14	chr3:78990780-78990830	HL-60	blood:	n/a
15	chr3:78990780-78990830	NHBE	bronchial:	n/a
16	chr3:78990780-78990830	HPAEpiC	pulmonary alveolar:	n/a
17	chr3:78990780-78990830	NT2-D1	testis:	n/a
18	chr3:78990780-78990830	Jurkat	blood:	n/a
19	chr3:78990780-78990830	NHDF-neo	bronchial:	n/a
20	chr3:78990780-78990830	IMR90	lung:	fetal
21	chr3:78990780-78990830	HRPEpiC	eye:	n/a
22	chr3:78990780-78990830	A549	lung:	n/a
23	chr3:78990780-78990830	HRCEpiC	kidney:	n/a
24	chr3:78990780-78990830	GM12892	blood:	n/a
25	chr3:78990780-78990830	HCM	heart:	n/a
26	chr3:78990780-78990830	GM12878	blood:	n/a
27	chr3:78990780-78990830	HCPEpiC	choroid plexus:	n/a
28	chr3:78990780-78990830	HEK293	kidney:	embryo
29	chr3:78990780-78990830	SKMC	muscle:	n/a
30	chr3:78990780-78990830	PFSK-1	brain:	n/a
31	chr3:78990780-78990830	K562	blood:	n/a
32	chr3:78990780-78990830	PrEC	prostate:	n/a
33	chr3:78990780-78990830	HMEC	breast:	n/a
34	chr3:78990780-78990830	PANC-1	pancreas:	n/a
35	chr3:78990780-78990830	AG09319	gingival:	n/a
36	chr3:78990780-78990830	SK-N-MC	brain:	n/a
37	chr3:78990780-78990830	Hepatocyte	liver:	n/a
38	chr3:78990780-78990830	NB4	blood:	n/a
39	chr3:78990780-78990830	CMK	blood:	n/a
40	chr3:78990780-78990830	MCF-7	breast:	n/a
41	chr3:78990780-78990830	H1-hESC	embryonic stem cell:	embryo
42	chr3:78990780-78990830	GM19239	blood:	n/a
43	chr3:78990780-78990830	GM12891	blood:	n/a
44	chr3:78990780-78990830	BE2_C	brain:	n/a
45	chr3:78990780-78990830	HepG2	liver:	n/a
46	chr3:78990780-78990830	AG04449	skin:	fetal
47	chr3:78990780-78990830	HUVEC	blood vessel:	n/a
48	chr3:78990780-78990830	AG09309	skin:	n/a
49	chr3:78990780-78990830	NH-A	brain:	n/a
50	chr3:78990780-78990830	HIPEpiC	eye:	n/a

No data

Variant related genes	Relation type
RN7SL751P	TF binding region
RN7SL751P	CpG island

Extended variants
information (count: 118 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555638929	chr3:78990077-78990078	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs575591889	chr3:78990090-78990091	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs78605747	chr3:78990097-78990098	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs558055178	chr3:78990141-78990142	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs141491968	chr3:78990142-78990143	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs150202190	chr3:78990151-78990152	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs540231985	chr3:78990164-78990165	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs550274732	chr3:78990170-78990171	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372325459	chr3:78990171-78990172	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs553553812	chr3:78990182-78990183	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs181539119	chr3:78990193-78990194	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs111971469	chr3:78990244-78990245	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs375350374	chr3:78990250-78990251	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs571348448	chr3:78990255-78990256	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs138784550	chr3:78990268-78990269	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs531862592	chr3:78990277-78990278	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs9631526	chr3:78990279-78990280	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs72906151	chr3:78990307-78990308	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs116798600	chr3:78990318-78990319	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs186283322	chr3:78990362-78990363	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs547775007	chr3:78990364-78990365	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs190217347	chr3:78990365-78990366	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs558690981	chr3:78990368-78990369	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs371894120	chr3:78990381-78990382	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs544744099	chr3:78990439-78990440	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs182531617	chr3:78990446-78990447	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs555577377	chr3:78990447-78990448	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs149370425	chr3:78990452-78990453	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs538053461	chr3:78990493-78990494	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs386662775	chr3:78990499-78990500	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs386662776	chr3:78990516-78990517	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs187998241	chr3:78990518-78990519	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs13317939	chr3:78990535-78990536	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553772257	chr3:78990549-78990550	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs573388206	chr3:78990574-78990575	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs542342705	chr3:78990575-78990576	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569347223	chr3:78990599-78990600	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs6548601	chr3:78990607-78990608	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs149086833	chr3:78990726-78990727	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs190923740	chr3:78990733-78990734	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs561006937	chr3:78990814-78990815	Weak transcription Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs528026967	chr3:78990838-78990839	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs547457161	chr3:78990840-78990841	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs561291698	chr3:78990873-78990874	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs75976545	chr3:78990880-78990881	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs550263368	chr3:78990938-78990939	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs182635916	chr3:78990973-78990974	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs537595513	chr3:78990982-78990983	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs551598389	chr3:78990983-78990984	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs112494243	chr3:78991089-78991090	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16912164	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78963200-78991000	Weak transcription	Fetal Brain Male	brain
2	chr3:78967200-79000600	Weak transcription	Fetal Kidney	kidney
3	chr3:78969000-78990800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:78969000-78991000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:78969200-78990400	Weak transcription	NHEK	skin
6	chr3:78969600-79000600	Weak transcription	HepG2	liver
7	chr3:78970400-78991000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr3:78977200-78990800	Weak transcription	Psoas Muscle	Psoas
9	chr3:78978400-78992200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:78978800-78990800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:78981600-78991600	Weak transcription	Fetal Heart	heart
12	chr3:78982400-79001800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:78984400-78990200	Weak transcription	Osteobl	bone
14	chr3:78985800-78990400	Weak transcription	NHDF-Ad	bronchial
15	chr3:78986000-78990600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:78986000-78990800	Weak transcription	NHLF	lung
17	chr3:78986200-78990800	Weak transcription	Primary T cells from cord blood	blood
18	chr3:78986800-78992200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:78987000-78990400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:78988000-78990200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:78988000-78990600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:78988000-78991000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr3:78988000-78993600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:78988000-79002400	Weak transcription	Aorta	Aorta
25	chr3:78988200-78990800	Weak transcription	Fetal Stomach	stomach
26	chr3:78988200-78992800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:78988400-78990400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:78988400-78990800	Weak transcription	Fetal Lung	lung
29	chr3:78988400-78991200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:78988400-78991400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr3:78988400-78992400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:78989200-78991000	Enhancers	Colon Smooth Muscle	Colon
33	chr3:78989600-78991000	Enhancers	Rectal Smooth Muscle	rectum
34	chr3:78989600-78991600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:78990000-78991600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr3:78990200-78991400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:78990200-78991600	Enhancers	Osteobl	bone
38	chr3:78990400-78991400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:78990400-78991400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:78990400-78991400	Enhancers	NHDF-Ad	bronchial
41	chr3:78990400-78991600	Enhancers	NHEK	skin
42	chr3:78990400-78992000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr3:78990600-78991600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:78990600-78991600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:78990800-78991000	Enhancers	Fetal Lung	lung
46	chr3:78990800-78991000	Enhancers	Fetal Stomach	stomach
47	chr3:78990800-78991000	Enhancers	Psoas Muscle	Psoas
48	chr3:78990800-78991400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:78990800-78991400	Enhancers	NHLF	lung
50	chr3:78991000-78991200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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