Variant report

Variant	nsv159278
Chromosome Location	chr1:112992010-112994957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
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	EP300	chr1:112993868-112994270	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr1:112993912-112994187	SK-N-SH_RA	brain:	n/a	n/a
3	FOXA1	chr1:112992200-112992538	T-47D	breast:	n/a	chr1:112992306-112992318
4	MAFK	chr1:112992520-112992789	IMR90	lung:	n/a	n/a
5	MAFK	chr1:112992551-112992760	HepG2	liver:	n/a	n/a
6	MAFK	chr1:112992544-112992710	HepG2	liver:	n/a	n/a
7	POLR2A	chr1:112991438-112992046	K562	blood:	n/a	n/a
8	POLR2A	chr1:112994571-112994907	K562	blood:	n/a	n/a
9	POLR2A	chr1:112992865-112992879	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr1:112994167-112994309	K562	blood:	n/a	n/a
11	ZNF384	chr1:112994279-112994578	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:112993731..112996050-chr1:113005952..113008136,2	K562	blood:
2	chr1:112990098..112992182-chr1:113002230..113004627,2	MCF-7	breast:
3	chr1:112993010..112995269-chr1:113247006..113249271,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WNT2B-1	chr1:112994202-112994517	expReg_chr1_13957_+

No data

Variant related genes	Relation type
CTTNBP2NL	TF binding region
ENSG00000155366	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1777616	chr1:112992094-112992095	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs369403604	chr1:112992110-112992111	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548891020	chr1:112992233-112992234	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568667440	chr1:112992247-112992248	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567532816	chr1:112992351-112992352	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs5777119	chr1:112992369-112992370	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555520320	chr1:112992370-112992371	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200524772	chr1:112992372-112992373	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58369949	chr1:112992375-112992376	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572231573	chr1:112992403-112992404	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182779245	chr1:112992459-112992460	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374523852	chr1:112992468-112992469	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546768004	chr1:112992500-112992501	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566264248	chr1:112992626-112992627	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187490867	chr1:112992648-112992649	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538345375	chr1:112992722-112992723	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558569351	chr1:112992740-112992741	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575084073	chr1:112992814-112992815	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1777617	chr1:112992826-112992827	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs142584884	chr1:112992827-112992828	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146024232	chr1:112992867-112992868	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540464087	chr1:112992878-112992879	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560376390	chr1:112992886-112992887	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573329951	chr1:112992901-112992902	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545170156	chr1:112992916-112992917	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565289008	chr1:112992934-112992935	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191514896	chr1:112992976-112992977	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34988976	chr1:112992989-112992990	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74654721	chr1:112993087-112993088	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78700416	chr1:112993088-112993089	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75176412	chr1:112993089-112993090	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs77868486	chr1:112993090-112993091	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139989918	chr1:112993099-112993100	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563487739	chr1:112993119-112993120	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561103183	chr1:112993134-112993135	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs376314062	chr1:112993170-112993171	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs530314004	chr1:112993213-112993214	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546831144	chr1:112993222-112993223	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs142267638	chr1:112993249-112993250	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557872350	chr1:112993310-112993311	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538730976	chr1:112993384-112993385	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs34309573	chr1:112993389-112993390	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551946472	chr1:112993399-112993400	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs397824008	chr1:112993406-112993407	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568850810	chr1:112993423-112993424	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537416419	chr1:112993528-112993529	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554585744	chr1:112993536-112993537	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568401216	chr1:112993567-112993568	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs146737233	chr1:112993615-112993616	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs534073399	chr1:112993646-112993647	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:182 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112957600-112997600	Weak transcription	Brain Anterior Caudate	brain
2	chr1:112959800-112992800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:112960000-112995200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:112960000-112996800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:112961200-112995600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:112965800-112996200	Weak transcription	Placenta	Placenta
7	chr1:112968600-112994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:112968600-112995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:112968600-112995600	Weak transcription	Colonic Mucosa	Colon
10	chr1:112974000-112997000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:112976200-112994200	Weak transcription	Psoas Muscle	Psoas
12	chr1:112979600-112998600	Weak transcription	Right Ventricle	heart
13	chr1:112979600-112998600	Weak transcription	Spleen	Spleen
14	chr1:112979800-112992200	Weak transcription	Brain Germinal Matrix	brain
15	chr1:112981000-112997200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:112981400-113006000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:112981600-112999000	Weak transcription	Brain Substantia Nigra	brain
18	chr1:112981800-112996600	Weak transcription	Liver	Liver
19	chr1:112982000-112996800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr1:112982000-112998800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:112982600-112998600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:112982800-112998800	Weak transcription	Colon Smooth Muscle	Colon
23	chr1:112984400-112995600	Weak transcription	Fetal Kidney	kidney
24	chr1:112986400-112998600	Weak transcription	Aorta	Aorta
25	chr1:112987800-112996800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr1:112987800-112998600	Weak transcription	Gastric	stomach
27	chr1:112988000-112993600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:112988000-112994000	Weak transcription	Fetal Intestine Small	intestine
29	chr1:112988600-112992200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:112988600-112995400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:112988600-112998200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:112988600-113004200	Weak transcription	Fetal Heart	heart
33	chr1:112988800-112998200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:112988800-113008400	Weak transcription	A549	lung
35	chr1:112989200-112993600	Weak transcription	NHDF-Ad	bronchial
36	chr1:112989400-112992200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:112989400-112995200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:112989400-112995400	Weak transcription	Lung	lung
39	chr1:112989400-112998200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:112989400-112998800	Weak transcription	GM12878-XiMat	blood
41	chr1:112989400-112999200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr1:112989600-112992400	Weak transcription	NHLF	lung
43	chr1:112989600-112995400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:112989600-112995600	Weak transcription	Small Intestine	intestine
45	chr1:112989600-113004000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr1:112990000-112993800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr1:112990000-112996400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:112990000-113002800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:112990200-112993200	Strong transcription	HSMM	muscle
50	chr1:112990200-112993800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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