Variant report

Variant	nsv946082
Chromosome Location	chr1:93741885-93761433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:45)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:45 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:93747247-93747442	HepG2	liver:	n/a	n/a
2	CTCF	chr1:93754293-93754377	HepG2	liver:	n/a	n/a
3	CTCF	chr1:93747786-93747882	Fibrobl	skin:	n/a	n/a
4	CTCF	chr1:93754270-93754368	HUVEC	blood vessel:	n/a	n/a
5	CTCF	chr1:93754260-93754382	ProgFib	skin:	n/a	n/a
6	CTCF	chr1:93754275-93754410	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr1:93752760-93752910	GM12865	blood:	n/a	n/a
8	CTCF	chr1:93753195-93753206	LNCaP	prostate:	n/a	n/a
9	CTCF	chr1:93754296-93754360	NHEK	skin:	n/a	n/a
10	CTCF	chr1:93750039-93750107	GM20000	blood:	n/a	n/a
11	CTCF	chr1:93751420-93751570	HepG2	liver:	n/a	n/a
12	CTCF	chr1:93754315-93754359	MCF-7	breast:	n/a	n/a
13	CTCF	chr1:93753174-93753232	GM20000	blood:	n/a	n/a
14	CTCF	chr1:93754318-93754433	LNCaP	prostate:	n/a	n/a
15	CTCF	chr1:93754317-93754372	LNCaP	prostate:	n/a	n/a
16	CTCF	chr1:93754260-93754410	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr1:93745566-93745627	GM20000	blood:	n/a	n/a
18	EP300	chr1:93741399-93741919	HepG2	liver:	n/a	n/a
19	FOXA1	chr1:93740948-93741905	HepG2	liver:	n/a	n/a
20	FOXA2	chr1:93742877-93743377	A549	lung:	n/a	n/a
21	FOXA2	chr1:93742877-93743399	A549	lung:	n/a	n/a
22	FOXA2	chr1:93743032-93743177	HepG2	liver:	n/a	n/a
23	HEY1	chr1:93742267-93742384	HepG2	liver:	n/a	n/a
24	HEY1	chr1:93741449-93741941	HepG2	liver:	n/a	n/a
25	KAP1	chr1:93753993-93754216	HEK293	kidney:	n/a	n/a
26	MAX	chr1:93754316-93754390	NB4	blood:	n/a	chr1:93754367-93754377
27	MAX	chr1:93754160-93754483	ECC-1	luminal epithelium:	n/a	chr1:93754367-93754377
28	MYBL2	chr1:93740959-93741997	HepG2	liver:	n/a	n/a
29	MYC	chr1:93754186-93754519	MCF10A-Er-Src	breast:	n/a	chr1:93754367-93754377
30	MYC	chr1:93745731-93745755	H1-hESC	embryonic stem cell:	n/a	n/a
31	NFIC	chr1:93740982-93741911	HepG2	liver:	n/a	n/a
32	NFIC	chr1:93753935-93754702	ECC-1	luminal epithelium:	n/a	n/a
33	NFIC	chr1:93754114-93754657	SK-N-SH	brain:	n/a	n/a
34	NFIC	chr1:93753972-93754612	ECC-1	luminal epithelium:	n/a	n/a
35	NR3C1	chr1:93743003-93743148	A549	lung:	n/a	n/a
36	NR3C1	chr1:93742959-93743204	A549	lung:	n/a	n/a
37	POLR2A	chr1:93747808-93747909	Gliobla	brain:	n/a	n/a
38	POLR2A	chr1:93746686-93746715	MCF-7	breast:	n/a	n/a
39	POLR2A	chr1:93751610-93751787	Gliobla	brain:	n/a	n/a
40	RAD21	chr1:93754146-93754523	ECC-1	luminal epithelium:	n/a	n/a
41	SETDB1	chr1:93745685-93746031	U2OS	brain:	n/a	n/a
42	SP1	chr1:93741110-93741906	HepG2	liver:	n/a	n/a
43	SPI1	chr1:93746539-93746817	HL-60	blood:	n/a	n/a
44	TEAD4	chr1:93742538-93743019	H1-hESC	embryonic stem cell:	n/a	n/a
45	TEAD4	chr1:93741029-93742018	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93741791..93744296-chr1:93747290..93749363,2	K562	blood:
2	chr1:93741791..93744296-chr1:93747290..93749363,2	K562	blood:
3	chr1:93734547..93737745-chr1:93739602..93742236,3	K562	blood:
4	chr1:93754527..93756518-chr1:93768271..93771045,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMED5-1	chr1:93756122-93756243	ENSG00000223745.1
2	lnc-TMED5-1	chr1:93756122-93756243	ENSG00000223745.1

No data

Variant related genes	Relation type
ENSG00000223745	TF binding region
ENSG00000229567	TF binding region

Extended variants
information (count: 605 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142210856	chr1:93741889-93741890	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs542571647	chr1:93742023-93742024	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs28472933	chr1:93742026-93742027	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs180733967	chr1:93742035-93742036	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185395468	chr1:93742038-93742039	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549782986	chr1:93742217-93742218	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs565216569	chr1:93742289-93742290	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs57818111	chr1:93742359-93742360	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571473683	chr1:93742361-93742362	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs377327926	chr1:93742373-93742374	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs532176151	chr1:93742379-93742380	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs371441411	chr1:93742381-93742382	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs533664642	chr1:93742424-93742425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386633493	chr1:93742450-93742451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536362602	chr1:93742452-93742453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11164887	chr1:93742463-93742464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs548346278	chr1:93742597-93742598	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs60438994	chr1:93742615-93742616	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs60453409	chr1:93742743-93742744	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs57464218	chr1:93742778-93742779	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs7520125	chr1:93742805-93742806	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs569548411	chr1:93742889-93742890	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs377394558	chr1:93742893-93742894	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs368595138	chr1:93742949-93742950	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs375073230	chr1:93742967-93742968	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs556543578	chr1:93742998-93742999	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs542599422	chr1:93743004-93743005	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs578212065	chr1:93743012-93743013	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs538809629	chr1:93743018-93743019	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs553955386	chr1:93743020-93743021	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs373780682	chr1:93743051-93743052	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs572343406	chr1:93743056-93743057	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs377603966	chr1:93743072-93743073	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs7520340	chr1:93743079-93743080	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs7529716	chr1:93743107-93743108	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs7522724	chr1:93743113-93743114	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs6541403	chr1:93743114-93743115	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
38	rs7529719	chr1:93743122-93743123	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs7529725	chr1:93743128-93743129	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs7522737	chr1:93743151-93743152	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs189276545	chr1:93743152-93743153	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs543817065	chr1:93743165-93743166	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs7529753	chr1:93743183-93743184	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs368774099	chr1:93743204-93743205	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs374994796	chr1:93743224-93743225	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs150533723	chr1:93743285-93743286	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs201144670	chr1:93743309-93743310	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs565095396	chr1:93743310-93743311	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs371209968	chr1:93743326-93743327	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs139494467	chr1:93743329-93743330	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	16397240	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Prostate cancer	19156837	CNVD
Autism	17483303	CNVD
Malignant melanoma	17260012	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93647000-93756400	Weak transcription	Gastric	stomach
2	chr1:93647200-93757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:93692200-93787800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr1:93720000-93762000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:93728600-93751400	Weak transcription	Adipose Nuclei	Adipose
6	chr1:93728600-93754800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:93728600-93764400	Weak transcription	Psoas Muscle	Psoas
8	chr1:93728600-93769400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:93728600-93770400	Weak transcription	HSMM	muscle
10	chr1:93728800-93746600	Weak transcription	Aorta	Aorta
11	chr1:93728800-93751600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr1:93728800-93751800	Weak transcription	Placenta	Placenta
13	chr1:93728800-93752600	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:93728800-93752600	Weak transcription	Fetal Stomach	stomach
15	chr1:93728800-93753800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:93728800-93754800	Weak transcription	Ovary	ovary
17	chr1:93728800-93755000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:93728800-93755000	Weak transcription	Left Ventricle	heart
19	chr1:93728800-93755000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:93728800-93778200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:93729000-93745600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr1:93729000-93790200	Weak transcription	Osteobl	bone
23	chr1:93729800-93745400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr1:93729800-93752600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:93729800-93754800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr1:93729800-93763200	Weak transcription	Pancreas	Pancrea
27	chr1:93730000-93745400	Weak transcription	Thymus	Thymus
28	chr1:93730000-93745600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:93730000-93754400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr1:93730400-93745600	Weak transcription	Fetal Lung	lung
31	chr1:93730400-93745800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr1:93730400-93748200	Weak transcription	Fetal Thymus	thymus
33	chr1:93730400-93754600	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:93730600-93752600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:93731000-93765400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:93731200-93745600	Weak transcription	Primary B cells from cord blood	blood
37	chr1:93731200-93745600	Weak transcription	GM12878-XiMat	blood
38	chr1:93731200-93787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:93731600-93745400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:93731600-93745600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:93731600-93747200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:93731800-93745400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:93731800-93752800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:93731800-93754200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:93731800-93754600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:93736400-93771200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:93739200-93755000	Weak transcription	HSMMtube	muscle
48	chr1:93739400-93745400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:93739600-93754200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:93739600-93766600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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