Variant report

Variant	nsv518198
Chromosome Location	chr2:149210869-149219983
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:149216849-149217127	GM12878	blood:	n/a	n/a
2	CEBPB	chr2:149213445-149213687	HepG2	liver:	n/a	n/a
3	CREB1	chr2:149216854-149217426	GM12878	blood:	n/a	n/a
4	EP300	chr2:149217009-149217107	GM12878	blood:	n/a	n/a
5	EP300	chr2:149217053-149217107	GM12878	blood:	n/a	n/a
6	FOXA1	chr2:149217164-149217516	HepG2	liver:	n/a	chr2:149217391-149217403
7	FOXA2	chr2:149217109-149217439	A549	lung:	n/a	chr2:149217391-149217403
8	GATA1	chr2:149219486-149220026	PBDEFetal	blood:	n/a	chr2:149219621-149219632
9	GATA1	chr2:149219306-149219964	PBDE	blood:	n/a	chr2:149219621-149219632
10	GATA3	chr2:149219651-149219836	SH-SY5Y	brain:	n/a	n/a
11	MAFK	chr2:149217138-149217409	IMR90	lung:	n/a	n/a
12	MEF2A	chr2:149216945-149217564	SK-N-SH	brain:	n/a	chr2:149217252-149217263 chr2:149217251-149217265 chr2:149217254-149217263 chr2:149217249-149217270 chr2:149217253-149217264
13	MEF2A	chr2:149217060-149217396	GM12878	blood:	n/a	chr2:149217252-149217263 chr2:149217251-149217265 chr2:149217254-149217263 chr2:149217249-149217270 chr2:149217253-149217264
14	MEF2A	chr2:149216790-149217498	GM12878	blood:	n/a	chr2:149217252-149217263 chr2:149217251-149217265 chr2:149217254-149217263 chr2:149217249-149217270 chr2:149217253-149217264
15	NFIC	chr2:149216676-149217501	GM12878	blood:	n/a	n/a
16	PBX3	chr2:149216896-149217498	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr2:149214277-149214286	MCF10A-Er-Src	breast:	n/a	n/a
18	RFX5	chr2:149217253-149217424	K562	blood:	n/a	n/a
19	STAT3	chr2:149218957-149219116	MCF10A-Er-Src	breast:	n/a	n/a
20	STAT3	chr2:149215094-149215313	MCF10A-Er-Src	breast:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:149215642-149215692	SK-N-MC	brain:	n/a
2	chr2:149215642-149215692	SK-N-MC	brain:	n/a
3	chr2:149215535-149215585	NB4	blood:	n/a
4	chr2:149215884-149215934	H1-hESC	embryonic stem cell:	embryo
5	chr2:149216409-149216459	GM12892	blood:	n/a
6	chr2:149216409-149216459	NHBE	bronchial:	n/a
7	chr2:149215431-149215481	H1-hESC	embryonic stem cell:	embryo
8	chr2:149215642-149215692	LNCaP	prostate:	n/a
9	chr2:149216409-149216459	GM06990	blood:	n/a
10	chr2:149215642-149215692	BE2_C	brain:	n/a
11	chr2:149215431-149215481	GM12891	blood:	n/a
12	chr2:149215642-149215692	GM12891	blood:	n/a
13	chr2:149215431-149215481	ProgFib	skin:	n/a
14	chr2:149215884-149215934	SK-N-SH_RA	brain:	n/a
15	chr2:149215642-149215692	HRCEpiC	kidney:	n/a
16	chr2:149215884-149215934	MCF10A-Er-Src	breast:	n/a
17	chr2:149215431-149215481	Jurkat	blood:	n/a
18	chr2:149215535-149215585	Caco-2	colon:	n/a
19	chr2:149215535-149215585	SAEC	small airway:	n/a
20	chr2:149215431-149215481	Caco-2	colon:	n/a
21	chr2:149215884-149215934	T-47D	breast:	n/a
22	chr2:149215642-149215692	BJ	skin:	n/a
23	chr2:149215431-149215481	GM06990	blood:	n/a
24	chr2:149215884-149215934	U87	brain:	n/a
25	chr2:149216409-149216459	Caco-2	colon:	n/a
26	chr2:149216409-149216459	H1-hESC	embryonic stem cell:	embryo
27	chr2:149215431-149215481	HRPEpiC	eye:	n/a
28	chr2:149215642-149215692	AG10803	skin:	n/a
29	chr2:149216409-149216459	SK-N-SH_RA	brain:	n/a
30	chr2:149216409-149216459	HIPEpiC	eye:	n/a
31	chr2:149215884-149215934	HNPCEpiC	eye:	n/a
32	chr2:149215535-149215585	LNCaP	prostate:	n/a
33	chr2:149215431-149215481	AG09319	gingival:	n/a
34	chr2:149215884-149215934	MCF-7	breast:	n/a
35	chr2:149215642-149215692	CMK	blood:	n/a
36	chr2:149215431-149215481	HCPEpiC	choroid plexus:	n/a
37	chr2:149215884-149215934	CMK	blood:	n/a
38	chr2:149215884-149215934	HMEC	breast:	n/a
39	chr2:149215535-149215585	T-47D	breast:	n/a
40	chr2:149215642-149215692	K562	blood:	n/a
41	chr2:149215431-149215481	CMK	blood:	n/a
42	chr2:149216409-149216459	GM12891	blood:	n/a
43	chr2:149215642-149215692	PrEC	prostate:	n/a
44	chr2:149215431-149215481	GM19239	blood:	n/a
45	chr2:149215642-149215692	PANC-1	pancreas:	n/a
46	chr2:149215431-149215481	A549	lung:	n/a
47	chr2:149215535-149215585	AG09319	gingival:	n/a
48	chr2:149215431-149215481	Hela-S3	cervix:	n/a
49	chr2:149215884-149215934	SKMC	muscle:	n/a
50	chr2:149215431-149215481	SK-N-SH	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBD5-1	chr2:149215772-149216066	NONHSAT074871
2	lnc-MBD5-1	chr2:149215772-149215927	NONHSAT074872
3	lnc-MBD5-1	chr2:149215772-149215886	NONHSAT074878

No data

Variant related genes	Relation type
MBD5	TF binding region
MBD5	CpG island

Extended variants
information (count: 273 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1979037	chr2:149210869-149210870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576948958	chr2:149210871-149210872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1979038	chr2:149210898-149210899	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs181399631	chr2:149210944-149210945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185935799	chr2:149210965-149210966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139315490	chr2:149210987-149210988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1979039	chr2:149211010-149211011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188448021	chr2:149211018-149211019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181297140	chr2:149211034-149211035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144333011	chr2:149211063-149211064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs28700999	chr2:149211094-149211095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532723469	chr2:149211135-149211136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550726401	chr2:149211173-149211174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527855128	chr2:149211206-149211207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569230312	chr2:149211211-149211212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536498379	chr2:149211220-149211221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190951871	chr2:149211233-149211234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143883064	chr2:149211270-149211271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs58160324	chr2:149211311-149211312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551567926	chr2:149211350-149211351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534064051	chr2:149211414-149211415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34949337	chr2:149211439-149211440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558995264	chr2:149211543-149211544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563759815	chr2:149211616-149211617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574175916	chr2:149211701-149211702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35501726	chr2:149211710-149211711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35351351	chr2:149211728-149211729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544419663	chr2:149211740-149211741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180902082	chr2:149211807-149211808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146571059	chr2:149211890-149211891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560147911	chr2:149211902-149211903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373769799	chr2:149211936-149211937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542136025	chr2:149211974-149211975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72861112	chr2:149211997-149211998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140349882	chr2:149212051-149212052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527256013	chr2:149212073-149212074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545612770	chr2:149212084-149212085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75400962	chr2:149212096-149212097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531278359	chr2:149212157-149212158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550761582	chr2:149212177-149212178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569065612	chr2:149212264-149212265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187004889	chr2:149212333-149212334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530375481	chr2:149212383-149212384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548453840	chr2:149212420-149212421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191092084	chr2:149212429-149212430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534215393	chr2:149212449-149212450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549104688	chr2:149212453-149212454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558652410	chr2:149212479-149212480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2034269	chr2:149212518-149212519	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75590910	chr2:149212538-149212539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149174200-149221400	Weak transcription	Primary T cells from cord blood	blood
2	chr2:149174400-149221400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:149193000-149226000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr2:149193400-149221600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:149194000-149216200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:149194800-149216200	Weak transcription	Psoas Muscle	Psoas
7	chr2:149198600-149221600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:149198600-149226000	Weak transcription	HSMM	muscle
9	chr2:149205600-149213800	Weak transcription	Right Atrium	heart
10	chr2:149208400-149219400	Weak transcription	Aorta	Aorta
11	chr2:149208800-149221400	Weak transcription	Ovary	ovary
12	chr2:149208800-149226200	Weak transcription	Fetal Brain Male	brain
13	chr2:149209600-149230200	Weak transcription	Small Intestine	intestine
14	chr2:149210800-149221800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:149210800-149227800	Weak transcription	HUVEC	blood vessel
16	chr2:149211600-149221400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:149212000-149221400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:149212200-149225600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:149212400-149212600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:149212800-149214000	Enhancers	HepG2	liver
21	chr2:149213200-149213400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:149213400-149213600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:149213600-149214200	Enhancers	Placenta	Placenta
24	chr2:149213800-149214000	Enhancers	Right Atrium	heart
25	chr2:149214000-149227800	Weak transcription	HepG2	liver
26	chr2:149214200-149214600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:149214200-149221400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:149214200-149225800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:149214200-149226000	Weak transcription	Placenta	Placenta
30	chr2:149214400-149226000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:149214600-149228600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:149214800-149221400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:149214800-149221400	Weak transcription	Fetal Thymus	thymus
34	chr2:149214800-149225800	Weak transcription	Thymus	Thymus
35	chr2:149214800-149226400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:149214800-149226600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:149215000-149217000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:149215000-149246800	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:149215400-149226000	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:149215800-149226000	Weak transcription	Right Ventricle	heart
41	chr2:149216000-149216200	Weak transcription	Fetal Intestine Large	intestine
42	chr2:149216000-149216200	Weak transcription	Left Ventricle	heart
43	chr2:149216000-149217000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr2:149216000-149224600	Weak transcription	Esophagus	oesophagus
45	chr2:149216200-149216400	Enhancers	Fetal Intestine Large	intestine
46	chr2:149216200-149216400	Enhancers	Left Ventricle	heart
47	chr2:149216200-149216400	Genic enhancers	Psoas Muscle	Psoas
48	chr2:149216200-149216400	Enhancers	Sigmoid Colon	Sigmoid Colon
49	chr2:149216200-149216600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:149216200-149216600	Enhancers	Fetal Intestine Small	intestine

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