Variant report

Variant	nsv946154
Chromosome Location	chr1:114284536-114289205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:114284604-114284746	K562	blood:	n/a	n/a
2	CTCF	chr1:114284800-114284950	Hela-S3	cervix:	n/a	n/a
3	EP300	chr1:114285242-114285258	GM12878	blood:	n/a	n/a
4	FOS	chr1:114285282-114285430	MCF10A-Er-Src	breast:	n/a	n/a
5	IRF1	chr1:114285191-114285553	K562	blood:	n/a	chr1:114285350-114285371
6	IRF1	chr1:114285291-114285444	K562	blood:	n/a	chr1:114285350-114285371
7	IRF1	chr1:114285225-114285480	K562	blood:	n/a	chr1:114285350-114285371
8	IRF3	chr1:114286723-114286778	GM12878	blood:	n/a	n/a
9	POLR2A	chr1:114284748-114284750	HepG2	liver:	n/a	n/a
10	POLR2A	chr1:114285454-114285685	K562	blood:	n/a	n/a
11	POLR2A	chr1:114286653-114286714	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr1:114285091-114285092	K562	blood:	n/a	n/a
13	ZNF143	chr1:114286428-114286758	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF143	chr1:114286441-114286739	GM12878	blood:	n/a	n/a
15	ZNF143	chr1:114286499-114286699	Hela-S3	cervix:	n/a	n/a
16	ZNF143	chr1:114286400-114286764	K562	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114285761..114289073-chr1:114301555..114304842,3	MCF-7	breast:
2	chr1:114278627..114281471-chr1:114288325..114290097,2	K562	blood:
3	chr1:114284419..114286418-chr1:114288180..114289836,2	MCF-7	breast:
4	chr1:114287954..114289689-chr1:114300349..114302799,2	K562	blood:
5	chr1:114284419..114286418-chr1:114288180..114289836,2	MCF-7	breast:
6	chr1:114285065..114287961-chr1:114294303..114296878,2	MCF-7	breast:
7	chr1:114288396..114289144-chr17:56736173..56736738,2	MCF-7	breast:
8	chr1:114287954..114290278-chr1:114299824..114302799,3	K562	blood:
9	chr1:114272815..114274973-chr1:114283246..114285261,2	K562	blood:
10	chr1:114273951..114275482-chr1:114286454..114288640,2	K562	blood:
11	chr1:114288495..114291547-chr1:114293011..114295416,4	K562	blood:
12	chr1:114281940..114285839-chr1:114300217..114304020,4	K562	blood:
13	chr1:114286420..114288748-chr1:114290597..114292568,2	MCF-7	breast:
14	chr1:114284662..114288225-chr1:114289766..114292504,3	K562	blood:
15	chr1:114288641..114291547-chr1:114291937..114296627,5	K562	blood:
16	chr1:114284053..114286818-chr1:114290304..114293506,3	K562	blood:

No data

Variant related genes	Relation type
PHTF1	TF binding region
ENSG00000202077	chromatin interactions
ENSG00000116793	chromatin interactions

Extended variants
information (count: 168 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542854725	chr1:114284633-114284634	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535043434	chr1:114284646-114284647	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs557762691	chr1:114284657-114284658	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs571606304	chr1:114284678-114284679	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs530206295	chr1:114284680-114284681	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs189978243	chr1:114284763-114284764	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs547152321	chr1:114284765-114284766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183297432	chr1:114284791-114284792	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11102679	chr1:114284820-114284821	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs553061364	chr1:114284852-114284853	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572747329	chr1:114284937-114284938	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs545030137	chr1:114284938-114284939	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs564396641	chr1:114284972-114284973	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs533448953	chr1:114284973-114284974	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11581116	chr1:114285005-114285006	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs543581324	chr1:114285008-114285009	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186508497	chr1:114285015-114285016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs529521914	chr1:114285065-114285066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191445714	chr1:114285076-114285077	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs183713558	chr1:114285106-114285107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs528465321	chr1:114285107-114285108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs551758083	chr1:114285173-114285174	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187805535	chr1:114285195-114285196	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs368024168	chr1:114285200-114285201	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs375337688	chr1:114285255-114285256	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs74610368	chr1:114285303-114285304	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs575733350	chr1:114285338-114285339	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs74713505	chr1:114285349-114285350	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs115213897	chr1:114285489-114285490	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572905183	chr1:114285496-114285497	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs147539590	chr1:114285519-114285520	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs140227918	chr1:114285556-114285557	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs377072974	chr1:114285576-114285577	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs577881209	chr1:114285590-114285591	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs543693023	chr1:114285593-114285594	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563664491	chr1:114285600-114285601	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs192912871	chr1:114285602-114285603	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs564897761	chr1:114285620-114285621	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs559546414	chr1:114285665-114285666	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs528610447	chr1:114285734-114285735	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113203094	chr1:114285750-114285751	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs186612446	chr1:114285766-114285767	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs561343645	chr1:114285822-114285823	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs115699904	chr1:114285860-114285861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs200281144	chr1:114285865-114285866	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs528725316	chr1:114285866-114285867	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191359931	chr1:114285916-114285917	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536019727	chr1:114285948-114285949	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs546775208	chr1:114285954-114285955	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369445059	chr1:114285968-114285969	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Asthma	20841430	CNVD
Aetanephric adenomas	20802469	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	21956041	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	16573809	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Breast cancer	17899364	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Melanoma	19671679	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
2	chr1:114228000-114287800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:114236400-114300000	Weak transcription	Small Intestine	intestine
4	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:114245600-114300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:114248800-114290200	Weak transcription	HMEC	breast
7	chr1:114251000-114291400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:114256600-114288800	Weak transcription	K562	blood
9	chr1:114257600-114296200	Weak transcription	Pancreas	Pancrea
10	chr1:114258000-114300000	Weak transcription	Right Ventricle	heart
11	chr1:114261400-114300000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:114261400-114300600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:114261400-114301000	Weak transcription	Lung	lung
14	chr1:114261600-114300200	Weak transcription	Brain Angular Gyrus	brain
15	chr1:114261600-114300600	Weak transcription	Aorta	Aorta
16	chr1:114261600-114300600	Weak transcription	Esophagus	oesophagus
17	chr1:114261600-114300600	Weak transcription	Gastric	stomach
18	chr1:114262000-114286400	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:114263600-114285400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:114263600-114300000	Weak transcription	Fetal Lung	lung
21	chr1:114263600-114300400	Weak transcription	Fetal Intestine Large	intestine
22	chr1:114264000-114300400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:114264200-114300000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:114264400-114288200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:114264800-114290200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:114265000-114291200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:114267200-114290000	Weak transcription	NHEK	skin
28	chr1:114267400-114299400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr1:114267400-114300000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:114268400-114292000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:114268400-114298000	Weak transcription	A549	lung
32	chr1:114268600-114292000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:114268600-114292600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:114268600-114296200	Weak transcription	Fetal Intestine Small	intestine
35	chr1:114268800-114296400	Weak transcription	NHLF	lung
36	chr1:114268800-114299200	Weak transcription	Fetal Brain Female	brain
37	chr1:114269200-114296000	Weak transcription	Ovary	ovary
38	chr1:114271000-114287400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:114272800-114300000	Weak transcription	Primary B cells from cord blood	blood
40	chr1:114275200-114286600	Weak transcription	Brain Substantia Nigra	brain
41	chr1:114275200-114292600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:114276000-114285800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:114277800-114299200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:114279600-114287800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:114279800-114291200	Weak transcription	Fetal Stomach	stomach
46	chr1:114279800-114300200	Weak transcription	Fetal Kidney	kidney
47	chr1:114280200-114288600	Weak transcription	NHDF-Ad	bronchial
48	chr1:114280400-114288000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:114280400-114299000	Weak transcription	Brain Germinal Matrix	brain
50	chr1:114280400-114300000	Weak transcription	Psoas Muscle	Psoas

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