Variant report

Variant	nsv963932
Chromosome Location	chr2:144899453-144903814
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:144900321-144900521	HepG2	liver:	n/a	n/a
2	CEBPB	chr2:144901126-144901406	HepG2	liver:	n/a	n/a
3	E2F4	chr2:144900276-144900457	MCF10A-Er-Src	breast:	n/a	n/a
4	FAM48A	chr2:144901539-144901678	GM12878	blood:	n/a	n/a
5	JUND	chr2:144900370-144900418	H1-hESC	embryonic stem cell:	n/a	n/a
6	JUND	chr2:144901489-144901495	K562	blood:	n/a	n/a
7	MAFF	chr2:144900830-144901575	HepG2	liver:	n/a	chr2:144900997-144901011 chr2:144900991-144901009 chr2:144901202-144901216
8	MAFF	chr2:144900832-144901633	K562	blood:	n/a	chr2:144900997-144901011 chr2:144900991-144901009 chr2:144901202-144901216
9	MAFK	chr2:144900817-144901586	K562	blood:	n/a	chr2:144901199-144901210 chr2:144900994-144901014 chr2:144901198-144901209 chr2:144900993-144901004 chr2:144900993-144901008 chr2:144901199-144901219 chr2:144900996-144901012 chr2:144901198-144901209 chr2:144900993-144901004 chr2:144901201-144901217 chr2:144901198-144901214
10	MAFK	chr2:144900969-144901367	Hela-S3	cervix:	n/a	chr2:144901199-144901210 chr2:144900994-144901014 chr2:144901198-144901209 chr2:144900993-144901004 chr2:144900993-144901008 chr2:144901199-144901219 chr2:144900996-144901012 chr2:144901198-144901209 chr2:144900993-144901004 chr2:144901201-144901217 chr2:144901198-144901214
11	MAFK	chr2:144900886-144901510	H1-hESC	embryonic stem cell:	n/a	chr2:144901199-144901210 chr2:144900994-144901014 chr2:144901198-144901209 chr2:144900993-144901004 chr2:144900993-144901008 chr2:144901199-144901219 chr2:144900996-144901012 chr2:144901198-144901209 chr2:144900993-144901004 chr2:144901201-144901217 chr2:144901198-144901214
12	MAFK	chr2:144900830-144901605	HepG2	liver:	n/a	chr2:144901199-144901210 chr2:144900994-144901014 chr2:144901198-144901209 chr2:144900993-144901004 chr2:144900993-144901008 chr2:144901199-144901219 chr2:144900996-144901012 chr2:144901198-144901209 chr2:144900993-144901004 chr2:144901201-144901217 chr2:144901198-144901214
13	MAFK	chr2:144900821-144901627	IMR90	lung:	n/a	chr2:144901199-144901210 chr2:144900994-144901014 chr2:144901198-144901209 chr2:144900993-144901004 chr2:144900993-144901008 chr2:144901199-144901219 chr2:144900996-144901012 chr2:144901198-144901209 chr2:144900993-144901004 chr2:144901201-144901217 chr2:144901198-144901214
14	MAFK	chr2:144900819-144901625	HepG2	liver:	n/a	chr2:144901199-144901210 chr2:144900994-144901014 chr2:144901198-144901209 chr2:144900993-144901004 chr2:144900993-144901008 chr2:144901199-144901219 chr2:144900996-144901012 chr2:144901198-144901209 chr2:144900993-144901004 chr2:144901201-144901217 chr2:144901198-144901214
15	MAX	chr2:144901290-144901599	NB4	blood:	n/a	n/a
16	POLR2A	chr2:144901311-144901511	K562	blood:	n/a	n/a
17	POLR2A	chr2:144902476-144902981	K562	blood:	n/a	n/a
18	POLR2A	chr2:144900841-144900870	K562	blood:	n/a	n/a
19	POLR2A	chr2:144902455-144902499	MCF10A-Er-Src	breast:	n/a	n/a
20	SPI1	chr2:144901274-144901740	HL-60	blood:	n/a	chr2:144901457-144901470
21	SPI1	chr2:144901260-144901570	GM12891	blood:	n/a	chr2:144901457-144901470
22	SPI1	chr2:144901307-144901662	GM12891	blood:	n/a	chr2:144901457-144901470
23	SPI1	chr2:144901245-144901758	GM12878	blood:	n/a	chr2:144901457-144901470
24	SPI1	chr2:144901373-144901576	GM12878	blood:	n/a	chr2:144901457-144901470
25	SPI1	chr2:144901385-144901557	K562	blood:	n/a	chr2:144901457-144901470
26	SPI1	chr2:144901149-144901722	HL-60	blood:	n/a	chr2:144901457-144901470
27	SPI1	chr2:144901343-144901603	GM12878	blood:	n/a	chr2:144901457-144901470
28	SPI1	chr2:144901324-144901568	K562	blood:	n/a	chr2:144901457-144901470
29	UBTF	chr2:144901020-144901030	K562	blood:	n/a	n/a
30	ZNF143	chr2:144901315-144901364	K562	blood:	n/a	n/a
31	ZNF384	chr2:144903415-144903783	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:144899258..144902330-chr2:144902942..144905642,3	K562	blood:
2	chr2:144895471..144897745-chr2:144898659..144900274,2	K562	blood:
3	chr2:144892733..144894678-chr2:144896829..144900456,3	K562	blood:
4	chr2:144898663..144900343-chr2:146340645..146343317,2	MCF-7	breast:

Variant related genes	Relation type
GTDC1	TF binding region
ENSG00000121964	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs116388652	chr2:144899457-144899458	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs35741727	chr2:144899482-144899483	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150475353	chr2:144899487-144899488	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs138553809	chr2:144899509-144899510	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147134115	chr2:144899524-144899525	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376000257	chr2:144899534-144899535	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370414763	chr2:144899555-144899556	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374411825	chr2:144899558-144899559	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3731958	chr2:144899559-144899560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs114650281	chr2:144899563-144899564	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146508476	chr2:144899581-144899582	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115333974	chr2:144899591-144899592	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs200673918	chr2:144899609-144899610	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569581257	chr2:144899761-144899762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530458135	chr2:144899807-144899808	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs548557479	chr2:144899840-144899841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566183752	chr2:144899876-144899877	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs147665286	chr2:144899914-144899915	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs79180340	chr2:144899929-144899930	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534283109	chr2:144899938-144899939	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs73008211	chr2:144899947-144899948	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs527299079	chr2:144899952-144899953	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs142322015	chr2:144899969-144899970	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs538457600	chr2:144900050-144900051	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556780614	chr2:144900076-144900077	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs548954992	chr2:144900117-144900118	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs190193949	chr2:144900165-144900166	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs542583559	chr2:144900184-144900185	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182153014	chr2:144900202-144900203	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115198227	chr2:144900266-144900267	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs540295830	chr2:144900300-144900301	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538510658	chr2:144900360-144900361	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146905715	chr2:144900379-144900380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556832483	chr2:144900380-144900381	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73008212	chr2:144900388-144900389	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73008213	chr2:144900412-144900413	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139322668	chr2:144900414-144900415	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs377474527	chr2:144900435-144900436	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112765093	chr2:144900524-144900525	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs548633032	chr2:144900553-144900554	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs560501596	chr2:144900565-144900566	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs527689946	chr2:144900614-144900615	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs552214718	chr2:144900617-144900618	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs78974453	chr2:144900666-144900667	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554313833	chr2:144900695-144900696	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs537998885	chr2:144900717-144900718	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs550339759	chr2:144900725-144900726	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568747354	chr2:144900779-144900780	Weak transcription Enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs150449445	chr2:144900804-144900805	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs536514127	chr2:144900813-144900814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144870200-144909000	Weak transcription	Psoas Muscle	Psoas
2	chr2:144871400-144900600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:144871600-144903200	Weak transcription	Left Ventricle	heart
4	chr2:144872000-144901200	Weak transcription	Fetal Kidney	kidney
5	chr2:144873600-144901400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:144873600-144901400	Weak transcription	Adipose Nuclei	Adipose
7	chr2:144873800-144901800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:144874800-144913200	Weak transcription	Fetal Lung	lung
9	chr2:144877200-144903200	Weak transcription	Ovary	ovary
10	chr2:144883200-144908000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:144891600-144902400	Weak transcription	Fetal Brain Male	brain
12	chr2:144891800-144917400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:144892000-144903000	Weak transcription	Primary T cells from cord blood	blood
14	chr2:144892200-144914400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:144895800-144900400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:144895800-144901000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:144895800-144901200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:144895800-144901600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:144895800-144902400	Weak transcription	HSMMtube	muscle
20	chr2:144895800-144910000	Weak transcription	NH-A	brain
21	chr2:144896000-144901600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr2:144896200-144901000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:144896400-144901200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:144896400-144909800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:144897200-144899600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:144898600-144900000	Strong transcription	Primary B cells from cord blood	blood
27	chr2:144898600-144901400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:144898600-144901400	Weak transcription	NHLF	lung
29	chr2:144898800-144900000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:144898800-144900400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:144899000-144900400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr2:144900000-144901000	Weak transcription	Primary B cells from cord blood	blood
33	chr2:144900000-144901600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:144900400-144900800	Strong transcription	Fetal Muscle Leg	muscle
35	chr2:144900400-144900800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr2:144900400-144902400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr2:144900400-144903000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:144900600-144900800	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr2:144900800-144901400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr2:144900800-144903200	Active TSS	Right Atrium	heart
41	chr2:144900800-144903800	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:144901000-144902000	Enhancers	Primary B cells from cord blood	blood
43	chr2:144901000-144902000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:144901000-144902000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:144901200-144901400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:144901200-144901800	Enhancers	Primary hematopoietic stem cells	blood
47	chr2:144901200-144901800	Enhancers	Fetal Kidney	kidney
48	chr2:144901200-144901800	Enhancers	Osteobl	bone
49	chr2:144901200-144902200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:144901400-144901600	Enhancers	Monocytes-CD14+_RO01746	blood

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