Variant report

Variant	nsv834383
Chromosome Location	chr2:133874257-133906766
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	BATF	chr2:133892668-133892866	GM12878	blood:	n/a	n/a
2	BCL11A	chr2:133897445-133897743	H1-hESC	embryonic stem cell:	n/a	chr2:133897635-133897644 chr2:133897634-133897643
3	CEBPB	chr2:133888428-133888781	IMR90	lung:	n/a	n/a
4	CEBPB	chr2:133897405-133897664	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr2:133884617-133885020	HepG2	liver:	n/a	chr2:133884879-133884890 chr2:133884881-133884890
6	CEBPB	chr2:133884649-133884917	IMR90	lung:	n/a	chr2:133884879-133884890 chr2:133884881-133884890
7	CEBPB	chr2:133888455-133888729	Hela-S3	cervix:	n/a	n/a
8	CHD2	chr2:133897550-133897741	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr2:133904542-133904837	GM12878	blood:	n/a	chr2:133904676-133904697
10	CTCF	chr2:133904580-133904730	HRPEpiC	eye:	n/a	chr2:133904676-133904697
11	CTCF	chr2:133904620-133904770	AG04449	skin:	n/a	chr2:133904676-133904697
12	CTCF	chr2:133904560-133904710	HEEpiC	esophagus:	n/a	chr2:133904676-133904697
13	CTCF	chr2:133904620-133904770	HRE	kidney:	n/a	chr2:133904676-133904697
14	CTCF	chr2:133904666-133904703	LNCaP	prostate:	n/a	chr2:133904676-133904697
15	CTCF	chr2:133904640-133904790	HPAF	blood vessel:	n/a	chr2:133904676-133904697
16	CTCF	chr2:133906194-133906282	MCF-7	breast:	n/a	n/a
17	CTCF	chr2:133904680-133904830	A549	lung:	n/a	n/a
18	CTCF	chr2:133904642-133904720	SK-N-SH_RA	brain:	n/a	chr2:133904676-133904697
19	CTCF	chr2:133904580-133904730	BJ	skin:	n/a	chr2:133904676-133904697
20	CTCF	chr2:133904636-133904763	Hela-S3	cervix:	n/a	chr2:133904676-133904697
21	CTCF	chr2:133904520-133904670	RPTEC	kidney:	n/a	n/a
22	CTCF	chr2:133904500-133904650	RPTEC	kidney:	n/a	n/a
23	CTCF	chr2:133904566-133904805	SK-N-SH_RA	brain:	n/a	chr2:133904676-133904697
24	CTCF	chr2:133904646-133904735	HUVEC	blood vessel:	n/a	chr2:133904676-133904697
25	CTCF	chr2:133904620-133904770	HCPEpiC	choroid plexus:	n/a	chr2:133904676-133904697
26	CTCF	chr2:133904641-133904749	MCF-7	breast:	n/a	chr2:133904676-133904697
27	CTCF	chr2:133904626-133904774	Gliobla	brain:	n/a	chr2:133904676-133904697
28	CTCF	chr2:133904640-133904790	HCFaa	heart:	n/a	chr2:133904676-133904697
29	CTCF	chr2:133904660-133904810	HCM	heart:	n/a	chr2:133904676-133904697
30	CTCF	chr2:133904620-133904770	AG10803	skin:	n/a	chr2:133904676-133904697
31	CTCF	chr2:133904600-133904750	HMEC	breast:	n/a	chr2:133904676-133904697
32	CTCF	chr2:133904640-133904790	HEEpiC	esophagus:	n/a	chr2:133904676-133904697
33	CTCF	chr2:133904680-133904830	HRPEpiC	eye:	n/a	n/a
34	CTCF	chr2:133904560-133904710	AoAF	blood vessel:	n/a	chr2:133904676-133904697
35	CTCF	chr2:133904600-133904750	HRE	kidney:	n/a	chr2:133904676-133904697
36	CTCF	chr2:133904600-133904750	AG04450	lung:	n/a	chr2:133904676-133904697
37	CTCF	chr2:133904620-133904770	HPAF	blood vessel:	n/a	chr2:133904676-133904697
38	CTCF	chr2:133904620-133904770	HPF	lung:	n/a	chr2:133904676-133904697
39	CTCF	chr2:133904560-133904710	HFF	foreskin:	n/a	chr2:133904676-133904697
40	CTCF	chr2:133906197-133906288	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:133904680-133904830	GM12874	blood:	n/a	n/a
42	CTCF	chr2:133904612-133904786	MCF-7	breast:	n/a	chr2:133904676-133904697
43	CTCF	chr2:133904580-133904730	HCPEpiC	choroid plexus:	n/a	chr2:133904676-133904697
44	CTCF	chr2:133904580-133904730	AG09319	gingival:	n/a	chr2:133904676-133904697
45	CTCF	chr2:133904600-133904750	AG09319	gingival:	n/a	chr2:133904676-133904697
46	CTCF	chr2:133904560-133904710	SK-N-SH_RA	brain:	n/a	chr2:133904676-133904697
47	CTCF	chr2:133904520-133904670	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:133904615-133904737	Spleen_OC	spleen:	n/a	chr2:133904676-133904697
49	CTCF	chr2:133904620-133904770	AG09309	skin:	n/a	chr2:133904676-133904697
50	CTCF	chr2:133904680-133904830	NHDF-neo	bronchial:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:133888263-133888313	GM06990	blood:	n/a
2	chr2:133888263-133888313	GM06990	blood:	n/a
3	chr2:133888263-133888313	HPAEpiC	pulmonary alveolar:	n/a
4	chr2:133888263-133888313	GM12878	blood:	n/a
5	chr2:133888263-133888313	HMEC	breast:	n/a
6	chr2:133888263-133888313	Caco-2	colon:	n/a
7	chr2:133888263-133888313	BJ	skin:	n/a
8	chr2:133888263-133888313	SKMC	muscle:	n/a
9	chr2:133888263-133888313	NB4	blood:	n/a
10	chr2:133888263-133888313	PANC-1	pancreas:	n/a
11	chr2:133888263-133888313	MCF10A-Er-Src	breast:	n/a
12	chr2:133888263-133888313	LNCaP	prostate:	n/a
13	chr2:133888263-133888313	AoSMC	blood vessel:	n/a
14	chr2:133888263-133888313	HIPEpiC	eye:	n/a
15	chr2:133888263-133888313	MCF-7	breast:	n/a
16	chr2:133888263-133888313	Hepatocyte	liver:	n/a
17	chr2:133888263-133888313	NT2-D1	testis:	n/a
18	chr2:133888263-133888313	HAEpiC	amniotic membrane:	n/a
19	chr2:133888263-133888313	Hela-S3	cervix:	n/a
20	chr2:133888263-133888313	AG04449	skin:	fetal
21	chr2:133888263-133888313	SK-N-SH	brain:	n/a
22	chr2:133888263-133888313	GM19239	blood:	n/a
23	chr2:133888263-133888313	PrEC	prostate:	n/a
24	chr2:133888263-133888313	HCM	heart:	n/a
25	chr2:133888263-133888313	PFSK-1	brain:	n/a
26	chr2:133888263-133888313	AG10803	skin:	n/a
27	chr2:133888263-133888313	HRCEpiC	kidney:	n/a
28	chr2:133888263-133888313	AG09309	skin:	n/a
29	chr2:133888263-133888313	T-47D	breast:	n/a
30	chr2:133888263-133888313	HepG2	liver:	n/a
31	chr2:133888263-133888313	HEEpiC	esophagus:	n/a
32	chr2:133888263-133888313	GM12892	blood:	n/a
33	chr2:133888263-133888313	AG09319	gingival:	n/a
34	chr2:133888263-133888313	HCF	heart:	n/a
35	chr2:133888263-133888313	ECC-1	luminal epithelium:	n/a
36	chr2:133888263-133888313	IMR90	lung:	fetal
37	chr2:133888263-133888313	SAEC	small airway:	n/a
38	chr2:133888263-133888313	HCPEpiC	choroid plexus:	n/a
39	chr2:133888263-133888313	HL-60	blood:	n/a
40	chr2:133888263-133888313	BE2_C	brain:	n/a
41	chr2:133888263-133888313	GM12891	blood:	n/a
42	chr2:133888263-133888313	H1-hESC	embryonic stem cell:	embryo
43	chr2:133888263-133888313	HNPCEpiC	eye:	n/a
44	chr2:133888263-133888313	K562	blood:	n/a
45	chr2:133888263-133888313	HCT-116	colon:	n/a
46	chr2:133888263-133888313	SK-N-MC	brain:	n/a
47	chr2:133888263-133888313	ProgFib	skin:	n/a
48	chr2:133888263-133888313	U87	brain:	n/a
49	chr2:133888263-133888313	RPTEC	kidney:	n/a
50	chr2:133888263-133888313	HRE	kidney:	n/a

Variant related genes	Relation type
ENSG00000269686	TF binding region
ENSG00000269686	CpG island

Extended variants
information (count: 1231 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1231 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548085481	chr2:133874264-133874265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569932143	chr2:133874381-133874382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537883663	chr2:133874433-133874434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368053956	chr2:133874437-133874438	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13402839	chr2:133874442-133874443	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs149526783	chr2:133874443-133874444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571519595	chr2:133874449-133874450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386650751	chr2:133874471-133874472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114254797	chr2:133874473-133874474	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4953871	chr2:133874478-133874479	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs4953872	chr2:133874496-133874497	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs148631521	chr2:133874564-133874565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548699388	chr2:133874600-133874601	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4954026	chr2:133874601-133874602	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs185706840	chr2:133874696-133874697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543084014	chr2:133874698-133874699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564910828	chr2:133874699-133874700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115333223	chr2:133874702-133874703	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540729696	chr2:133874742-133874743	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188951822	chr2:133874756-133874757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181794934	chr2:133874783-133874784	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186336601	chr2:133874784-133874785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563472490	chr2:133874795-133874796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112298881	chr2:133874811-133874812	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62180660	chr2:133874834-133874835	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs552161217	chr2:133874842-133874843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115872173	chr2:133874863-133874864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113696627	chr2:133874865-133874866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114540474	chr2:133874866-133874867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547951987	chr2:133874871-133874872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566175350	chr2:133874872-133874873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190976809	chr2:133874883-133874884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374314572	chr2:133874904-133874905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368378195	chr2:133874955-133874956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182693012	chr2:133874967-133874968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576525445	chr2:133875027-133875028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544825832	chr2:133875079-133875080	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537770169	chr2:133875109-133875110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3795846	chr2:133875131-133875132	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs371394217	chr2:133875142-133875143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs3795847	chr2:133875148-133875149	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs552681486	chr2:133875164-133875165	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186552664	chr2:133875201-133875202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143212420	chr2:133875202-133875203	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563522513	chr2:133875253-133875254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530573821	chr2:133875264-133875265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563699152	chr2:133875293-133875294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76023817	chr2:133875313-133875314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191334105	chr2:133875346-133875347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532598693	chr2:133875364-133875365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133854800-133892000	Weak transcription	Left Ventricle	heart
2	chr2:133867800-133877000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:133868000-133885200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:133868000-133888200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:133868200-133883600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:133871400-133876200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:133877000-133880400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:133877400-133879200	Enhancers	Stomach Mucosa	stomach
9	chr2:133877600-133878200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:133878200-133887200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:133879800-133880800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:133880000-133880200	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:133880000-133889200	Weak transcription	Liver	Liver
14	chr2:133880200-133880400	Enhancers	Brain Hippocampus Middle	brain
15	chr2:133880200-133880400	Enhancers	Ovary	ovary
16	chr2:133880200-133880600	Enhancers	Brain Substantia Nigra	brain
17	chr2:133880400-133880600	Enhancers	Brain Angular Gyrus	brain
18	chr2:133880400-133880600	Enhancers	Brain Anterior Caudate	brain
19	chr2:133880400-133881000	Weak transcription	Ovary	ovary
20	chr2:133880400-133888800	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:133880400-133889000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:133880600-133881800	Weak transcription	Brain Anterior Caudate	brain
23	chr2:133880600-133896200	Weak transcription	Brain Substantia Nigra	brain
24	chr2:133880800-133886000	Weak transcription	Brain Angular Gyrus	brain
25	chr2:133881000-133881800	Enhancers	Ovary	ovary
26	chr2:133881200-133881800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr2:133881400-133882600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:133881600-133881800	Enhancers	Pancreas	Pancrea
29	chr2:133881600-133882400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:133881600-133885200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:133881800-133882200	Enhancers	Brain Anterior Caudate	brain
32	chr2:133881800-133889200	Weak transcription	Ovary	ovary
33	chr2:133882000-133888600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr2:133882400-133882600	Enhancers	Pancreas	Pancrea
35	chr2:133882400-133889000	Weak transcription	Fetal Stomach	stomach
36	chr2:133882600-133882800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:133883600-133884200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:133883800-133887800	Weak transcription	Hela-S3	cervix
39	chr2:133884200-133884800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:133884400-133896600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:133884800-133887800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:133885200-133885800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:133885200-133886600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:133885400-133888600	Weak transcription	NH-A	brain
45	chr2:133885800-133888600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:133885800-133897800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:133886400-133888200	Weak transcription	Osteobl	bone
48	chr2:133886400-133888400	Weak transcription	NHLF	lung
49	chr2:133886600-133887200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:133887200-133887800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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