Variant report

Variant	nsv945612
Chromosome Location	chr1:211593276-211615726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:211593836-211594062	K562	blood:	n/a	n/a
2	CEBPB	chr1:211594350-211594714	IMR90	lung:	n/a	n/a
3	CEBPB	chr1:211613890-211613986	K562	blood:	n/a	n/a
4	CEBPB	chr1:211613773-211614031	K562	blood:	n/a	n/a
5	CEBPB	chr1:211597372-211597736	HepG2	liver:	n/a	chr1:211597546-211597557
6	CEBPB	chr1:211597451-211597626	A549	lung:	n/a	chr1:211597546-211597557
7	CEBPB	chr1:211613868-211614122	ECC-1	luminal epithelium:	n/a	n/a
8	CEBPB	chr1:211597474-211597644	H1-hESC	embryonic stem cell:	n/a	chr1:211597546-211597557
9	CEBPB	chr1:211613790-211614156	ECC-1	luminal epithelium:	n/a	n/a
10	CEBPB	chr1:211597452-211597652	K562	blood:	n/a	chr1:211597546-211597557
11	CEBPB	chr1:211597459-211597635	HepG2	liver:	n/a	chr1:211597546-211597557
12	CEBPB	chr1:211613887-211614013	A549	lung:	n/a	n/a
13	CEBPB	chr1:211597443-211597645	IMR90	lung:	n/a	chr1:211597546-211597557
14	CEBPB	chr1:211597489-211597663	Hela-S3	cervix:	n/a	chr1:211597546-211597557
15	CEBPB	chr1:211594312-211594788	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr1:211605902-211605926	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr1:211598298-211598355	HUVEC	blood vessel:	n/a	n/a
18	CTCF	chr1:211597980-211598130	GM06990	blood:	n/a	n/a
19	CTCF	chr1:211597767-211597803	GM20000	blood:	n/a	n/a
20	CTCF	chr1:211614702-211614722	GM20000	blood:	n/a	n/a
21	CUX1	chr1:211594150-211594243	GM12878	blood:	n/a	n/a
22	EBF1	chr1:211593750-211594138	GM12878	blood:	n/a	n/a
23	EBF1	chr1:211593766-211594003	GM12878	blood:	n/a	n/a
24	EP300	chr1:211593770-211594060	Hela-S3	cervix:	n/a	n/a
25	EP300	chr1:211594297-211594742	Hela-S3	cervix:	n/a	n/a
26	FOS	chr1:211594453-211594654	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr1:211593760-211594091	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr1:211593756-211594154	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr1:211593754-211594171	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr1:211594415-211594756	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr1:211594420-211594741	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr1:211593760-211594131	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr1:211594452-211594665	MCF10A-Er-Src	breast:	n/a	n/a
34	FOSL2	chr1:211593676-211594196	SK-N-SH	brain:	n/a	n/a
35	FOXA1	chr1:211595360-211595631	T-47D	breast:	n/a	n/a
36	FOXA1	chr1:211606685-211606951	HepG2	liver:	n/a	n/a
37	GATA3	chr1:211598321-211598423	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr1:211594170-211594902	SK-N-SH	brain:	n/a	n/a
39	GATA3	chr1:211598715-211598860	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr1:211594192-211594803	SK-N-SH	brain:	n/a	n/a
41	JUN	chr1:211593805-211594100	K562	blood:	n/a	n/a
42	JUND	chr1:211593738-211594118	Hela-S3	cervix:	n/a	n/a
43	JUND	chr1:211595010-211595011	H1-hESC	embryonic stem cell:	n/a	n/a
44	JUND	chr1:211593866-211593966	H1-hESC	embryonic stem cell:	n/a	n/a
45	JUND	chr1:211597481-211597651	HepG2	liver:	n/a	n/a
46	JUND	chr1:211593776-211594106	K562	blood:	n/a	n/a
47	JUND	chr1:211593756-211594109	H1-hESC	embryonic stem cell:	n/a	n/a
48	KAP1	chr1:211593696-211594086	U2OS	brain:	n/a	n/a
49	MAFF	chr1:211607337-211607524	HepG2	liver:	n/a	n/a
50	MAFK	chr1:211594291-211594853	IMR90	lung:	n/a	chr1:211594642-211594657

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211592567..211595477-chr1:211598046..211600040,2	K562	blood:
2	chr1:211591294..211593237-chr1:211594620..211596952,2	K562	blood:
3	chr1:211599016..211601630-chr1:211604235..211606553,2	K562	blood:
4	chr1:211556090..211557781-chr1:211604466..211606047,2	K562	blood:
5	chr1:211504123..211506416-chr1:211604400..211606288,2	K562	blood:
6	chr1:211592567..211595477-chr1:211598046..211600040,2	K562	blood:
7	chr1:211597928..211598767-chr1:211649263..211649948,2	MCF-7	breast:
8	chr1:211599016..211601630-chr1:211604235..211606553,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRAF5-1	chr1:211605661-211605877	NONHSAT009289
2	lnc-TRAF5-1	chr1:211605661-211605878	ENSG00000153363
3	lnc-TRAF5-1	chr1:211599553-211599625	NONHSAT009294
4	lnc-TRAF5-1	chr1:211599553-211599625	NONHSAT009289
5	lnc-TRAF5-2	chr1:211608414-211608675	ENSG00000261252.1
6	lnc-TRAF5-1	chr1:211605661-211606029	NONHSAT009294
7	lnc-TRAF5-1	chr1:211599553-211599625	ENSG00000153363
8	lnc-TRAF5-2	chr1:211608238-211608784	NONHSAT009298
9	lnc-TRAF5-1	chr1:211605661-211605911	NONHSAT009292
10	lnc-TRAF5-1	chr1:211599553-211599625	NONHSAT009292
11	lnc-RD3-4	chr1:211597757-211598038	NONHSAT009297

No data

Variant related genes	Relation type
ENSG00000261252	TF binding region
ARPC3P2	TF binding region
ENSG00000153363	chromatin interactions

Extended variants
information (count: 840 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:840 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552385162	chr1:211593279-211593280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190842120	chr1:211593302-211593303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531677307	chr1:211593326-211593327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549809532	chr1:211593517-211593518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113167674	chr1:211593530-211593531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569191955	chr1:211593542-211593543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75756193	chr1:211593578-211593579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
8	rs142700760	chr1:211593579-211593580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147342008	chr1:211593629-211593630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139602263	chr1:211593631-211593632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12080561	chr1:211593676-211593677	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs784367	chr1:211593745-211593746	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541695541	chr1:211593812-211593813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577371269	chr1:211593828-211593829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546537088	chr1:211593865-211593866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538494098	chr1:211593867-211593868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556594482	chr1:211593897-211593898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77323787	chr1:211593919-211593920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114974964	chr1:211593933-211593934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559802253	chr1:211593936-211593937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11811354	chr1:211593942-211593943	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs74445892	chr1:211593944-211593945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564259015	chr1:211593946-211593947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531415791	chr1:211593955-211593956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182070107	chr1:211593997-211593998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566658919	chr1:211594089-211594090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74729336	chr1:211594149-211594150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530093363	chr1:211594169-211594170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11119738	chr1:211594177-211594178	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs566970568	chr1:211594182-211594183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375890218	chr1:211594231-211594232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368885757	chr1:211594237-211594238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72743244	chr1:211594238-211594239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200395700	chr1:211594253-211594254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527739994	chr1:211594282-211594283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568262524	chr1:211594283-211594284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35699165	chr1:211594287-211594288	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570993431	chr1:211594301-211594302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538078700	chr1:211594444-211594445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556795258	chr1:211594449-211594450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568450589	chr1:211594465-211594466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376396617	chr1:211594497-211594498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557225718	chr1:211594556-211594557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11811760	chr1:211594568-211594569	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs553396985	chr1:211594569-211594570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576761230	chr1:211594572-211594573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs116683934	chr1:211594575-211594576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557580234	chr1:211594576-211594577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576157649	chr1:211594613-211594614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35328803	chr1:211594635-211594636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211581400-211608200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:211589600-211608800	Weak transcription	GM12878-XiMat	blood
3	chr1:211590200-211593600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:211590200-211601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:211590400-211593600	Weak transcription	Hela-S3	cervix
6	chr1:211590400-211593600	Weak transcription	HSMM	muscle
7	chr1:211590400-211593800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:211590400-211604400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:211590400-211607200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:211590400-211607600	Weak transcription	Left Ventricle	heart
11	chr1:211590400-211609000	Weak transcription	Primary B cells from cord blood	blood
12	chr1:211590600-211593600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:211590600-211602400	Weak transcription	Liver	Liver
14	chr1:211590600-211605600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:211590800-211593600	Weak transcription	HSMMtube	muscle
16	chr1:211590800-211593800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:211591000-211593600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:211591000-211593800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:211591000-211593800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:211591000-211593800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:211591000-211593800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:211591000-211593800	Weak transcription	NH-A	brain
23	chr1:211591000-211593800	Weak transcription	NHLF	lung
24	chr1:211591000-211594000	Weak transcription	NHDF-Ad	bronchial
25	chr1:211591000-211594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:211591000-211607400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:211591200-211593400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:211591200-211593400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:211591200-211593600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:211591200-211593600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:211591200-211593600	Weak transcription	Osteobl	bone
32	chr1:211592200-211605600	Weak transcription	Fetal Intestine Small	intestine
33	chr1:211593200-211593600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:211593200-211594400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:211593200-211594400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:211593200-211594800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:211593400-211594800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:211593400-211594800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:211593400-211595400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:211593600-211593800	Enhancers	HSMMtube	muscle
41	chr1:211593600-211594000	Enhancers	K562	blood
42	chr1:211593600-211594600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:211593600-211594600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:211593600-211594600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:211593600-211594800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:211593600-211594800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:211593600-211594800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:211593600-211594800	Enhancers	Hela-S3	cervix
49	chr1:211593600-211594800	Enhancers	HSMM	muscle
50	chr1:211593600-211595000	Enhancers	HUES48 Cell Line	embryonic stem cell

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