Variant report

Variant	nsv459429
Chromosome Location	chr2:133208597-133253386
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	chr2:133231795-133231925	HepG2	liver:	n/a	n/a
2	CTCF	chr2:133221420-133221570	HEEpiC	esophagus:	n/a	n/a
3	CTCF	chr2:133216880-133217030	NHDF-neo	bronchial:	n/a	n/a
4	CTCF	chr2:133242202-133242255	GM20000	blood:	n/a	n/a
5	EP300	chr2:133235355-133236051	SK-N-SH	brain:	n/a	n/a
6	EP300	chr2:133230296-133232553	SK-N-SH	brain:	n/a	n/a
7	EP300	chr2:133230744-133231478	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr2:133230728-133231498	SK-N-SH_RA	brain:	n/a	n/a
9	EP300	chr2:133219891-133220155	K562	blood:	n/a	n/a
10	FOS	chr2:133218376-133218696	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr2:133218457-133218694	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr2:133226567-133226701	MCF10A-Er-Src	breast:	n/a	chr2:133226602-133226613
13	FOS	chr2:133223604-133223747	MCF10A-Er-Src	breast:	n/a	chr2:133223657-133223667 chr2:133223658-133223666 chr2:133223657-133223667 chr2:133223656-133223668 chr2:133223658-133223666 chr2:133223659-133223666
14	FOS	chr2:133221406-133221681	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr2:133226496-133226696	MCF10A-Er-Src	breast:	n/a	chr2:133226602-133226613
16	FOS	chr2:133221389-133221625	MCF10A-Er-Src	breast:	n/a	n/a
17	FOSL2	chr2:133223411-133223920	SK-N-SH	brain:	n/a	chr2:133223657-133223667 chr2:133223658-133223666 chr2:133223657-133223667 chr2:133223656-133223668 chr2:133223658-133223666 chr2:133223659-133223666
18	FOSL2	chr2:133235388-133235882	SK-N-SH	brain:	n/a	n/a
19	FOXA1	chr2:133236816-133237067	T-47D	breast:	n/a	n/a
20	FOXA1	chr2:133235694-133235905	T-47D	breast:	n/a	n/a
21	FOXA1	chr2:133236825-133237132	T-47D	breast:	n/a	n/a
22	GATA1	chr2:133219848-133220221	PBDE	blood:	n/a	n/a
23	GATA2	chr2:133230507-133231725	SH-SY5Y	brain:	n/a	n/a
24	GATA3	chr2:133235392-133236045	SK-N-SH	brain:	n/a	n/a
25	GATA3	chr2:133235431-133235977	SK-N-SH	brain:	n/a	n/a
26	GATA3	chr2:133230617-133231554	SK-N-SH	brain:	n/a	n/a
27	GATA3	chr2:133230667-133231624	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr2:133230689-133231472	SK-N-SH	brain:	n/a	n/a
29	MAFF	chr2:133241813-133242057	HepG2	liver:	n/a	chr2:133241914-133241932
30	MAFK	chr2:133241795-133242051	HepG2	liver:	n/a	chr2:133241916-133241927 chr2:133241916-133241927 chr2:133241915-133241929 chr2:133241916-133241931 chr2:133241917-133241928 chr2:133241916-133241932 chr2:133241917-133241928
31	MAFK	chr2:133241833-133242012	IMR90	lung:	n/a	chr2:133241916-133241927 chr2:133241916-133241927 chr2:133241915-133241929 chr2:133241916-133241931 chr2:133241917-133241928 chr2:133241916-133241932 chr2:133241917-133241928
32	MAFK	chr2:133241756-133242083	HepG2	liver:	n/a	chr2:133241916-133241927 chr2:133241916-133241927 chr2:133241915-133241929 chr2:133241916-133241931 chr2:133241917-133241928 chr2:133241916-133241932 chr2:133241917-133241928
33	MAZ	chr2:133246600-133247149	IMR90	lung:	n/a	n/a
34	MAZ	chr2:133246867-133246870	K562	blood:	n/a	n/a
35	MXI1	chr2:133246839-133246979	H1-hESC	embryonic stem cell:	n/a	n/a
36	MYC	chr2:133240894-133240993	MCF-7	breast:	n/a	n/a
37	MYC	chr2:133226358-133226438	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr2:133218503-133218664	MCF10A-Er-Src	breast:	n/a	n/a
39	NFIC	chr2:133235546-133235849	SK-N-SH	brain:	n/a	n/a
40	NFIC	chr2:133235302-133235962	SK-N-SH	brain:	n/a	n/a
41	NFIC	chr2:133218301-133218826	SK-N-SH	brain:	n/a	n/a
42	NR2F2	chr2:133246642-133247044	MCF-7	breast:	n/a	n/a
43	PBX3	chr2:133235550-133235967	SK-N-SH	brain:	n/a	n/a
44	PBX3	chr2:133235429-133235989	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr2:133226283-133226922	U87	brain:	n/a	n/a
46	POLR2A	chr2:133226779-133227425	H1-neurons	neurons:	n/a	n/a
47	POLR2A	chr2:133249333-133249435	Gliobla	brain:	n/a	n/a
48	POLR2A	chr2:133226349-133226793	U87	brain:	n/a	n/a
49	POLR2A	chr2:133223523-133223867	U87	brain:	n/a	n/a
50	POLR2A	chr2:133241219-133241290	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:133230048..133232279-chr2:133233399..133234934,2	MCF-7	breast:
2	chr2:133218079..133220375-chr2:133221168..133223212,2	MCF-7	breast:
3	chr2:133239529..133242980-chr2:133243590..133246592,3	K562	blood:
4	chr2:133228178..133229976-chr2:133230852..133233408,2	MCF-7	breast:
5	chr2:133218079..133220375-chr2:133221168..133223212,2	MCF-7	breast:
6	chr2:133218783..133221422-chr2:133221426..133223420,2	MCF-7	breast:
7	chr2:133228178..133229976-chr2:133230852..133233408,2	MCF-7	breast:
8	chr2:133230048..133232279-chr2:133233399..133234934,2	MCF-7	breast:
9	chr2:133239529..133242980-chr2:133243590..133246592,3	K562	blood:
10	chr2:133218783..133221422-chr2:133221426..133223420,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LYPD1-3	chr2:133246127-133246661	NONHSAT074536

Variant related genes	Relation type
YBX1P7	TF binding region

Extended variants
information (count: 1828 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1828 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4383389	chr2:133208597-133208598	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541980358	chr2:133208598-133208599	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35427291	chr2:133208650-133208651	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs575284777	chr2:133208667-133208668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545524429	chr2:133208676-133208677	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113533350	chr2:133208720-133208721	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376605342	chr2:133208721-133208722	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147522757	chr2:133208738-133208739	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564109825	chr2:133208745-133208746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62167409	chr2:133208747-133208748	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34508615	chr2:133208748-133208749	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs200875787	chr2:133208749-133208750	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201861185	chr2:133208750-133208751	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146132537	chr2:133208751-133208752	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528036085	chr2:133208754-133208755	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140041837	chr2:133208826-133208827	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560990121	chr2:133208874-133208875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79363373	chr2:133208886-133208887	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140117626	chr2:133208907-133208908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181218936	chr2:133208949-133208950	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575368325	chr2:133208973-133208974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551138504	chr2:133208975-133208976	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569291830	chr2:133208991-133208992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545967527	chr2:133209009-133209010	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12373646	chr2:133209124-133209125	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116750242	chr2:133209142-133209143	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs376032086	chr2:133209230-133209231	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566883325	chr2:133209264-133209265	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs12373595	chr2:133209280-133209281	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs546938289	chr2:133209307-133209308	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184639540	chr2:133209385-133209386	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs142116138	chr2:133209435-133209436	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs532249381	chr2:133209509-133209510	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs557111279	chr2:133209518-133209519	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs6735999	chr2:133209538-133209539	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs142377477	chr2:133209565-133209566	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs539527827	chr2:133209579-133209580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111283251	chr2:133209672-133209673	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs148524297	chr2:133209683-133209684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539818589	chr2:133209706-133209707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs562078011	chr2:133209783-133209784	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs188741771	chr2:133209850-133209851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181474120	chr2:133209871-133209872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115829885	chr2:133209890-133209891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113390770	chr2:133209915-133209916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111641115	chr2:133210009-133210010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373955575	chr2:133210022-133210023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558839598	chr2:133210037-133210038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138746441	chr2:133210041-133210042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549385709	chr2:133210104-133210105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133195000-133218400	Weak transcription	Pancreas	Pancrea
2	chr2:133196600-133210000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:133202800-133208600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:133203200-133209600	Weak transcription	NHEK	skin
5	chr2:133206400-133209200	Enhancers	Fetal Heart	heart
6	chr2:133206800-133210200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:133208200-133209000	Strong transcription	A549	lung
8	chr2:133208200-133210000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:133208400-133208600	Enhancers	Gastric	stomach
10	chr2:133208600-133209400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:133208600-133217000	Weak transcription	Gastric	stomach
12	chr2:133209000-133209800	ZNF genes & repeats	A549	lung
13	chr2:133209400-133217000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:133209800-133216400	Weak transcription	A549	lung
15	chr2:133215400-133216800	Weak transcription	Liver	Liver
16	chr2:133216000-133221000	Enhancers	Fetal Heart	heart
17	chr2:133216400-133218000	ZNF genes & repeats	A549	lung
18	chr2:133216800-133217400	ZNF genes & repeats	Liver	Liver
19	chr2:133217000-133217200	Enhancers	Gastric	stomach
20	chr2:133217000-133218000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:133217200-133217800	Weak transcription	Gastric	stomach
22	chr2:133217800-133218600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr2:133217800-133218600	Enhancers	Gastric	stomach
24	chr2:133218000-133219400	Weak transcription	A549	lung
25	chr2:133218000-133219800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:133218400-133218600	Enhancers	Pancreas	Pancrea
27	chr2:133218600-133219000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:133218600-133221400	Weak transcription	Gastric	stomach
29	chr2:133219400-133219600	ZNF genes & repeats	A549	lung
30	chr2:133219400-133220200	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr2:133219800-133220400	Enhancers	K562	blood
32	chr2:133219800-133220600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:133220400-133222200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:133220600-133221400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:133220600-133230400	ZNF genes & repeats	Liver	Liver
36	chr2:133221000-133225800	Weak transcription	Fetal Heart	heart
37	chr2:133221200-133221600	ZNF genes & repeats	HMEC	breast
38	chr2:133221200-133226600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:133221400-133221600	ZNF genes & repeats	Gastric	stomach
40	chr2:133221400-133226200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:133221400-133226600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:133221600-133222400	Weak transcription	Pancreas	Pancrea
43	chr2:133221600-133223400	Weak transcription	Gastric	stomach
44	chr2:133222200-133223200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:133222800-133223000	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr2:133223000-133226600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:133223600-133225000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:133223800-133225000	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr2:133224000-133226600	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr2:133225600-133230600	ZNF genes & repeats	Fetal Intestine Small	intestine

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