Variant report

Variant	nsv583159
Chromosome Location	chr2:133667285-133678457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr2:133676696-133676742	K562	blood:	n/a	n/a
2	CEBPB	chr2:133667172-133667379	IMR90	lung:	n/a	n/a
3	CTCF	chr2:133669710-133669800	Medullo	brain:	n/a	n/a
4	CTCF	chr2:133669680-133669830	NHEK	skin:	n/a	n/a
5	CTCF	chr2:133669668-133669854	MCF-7	breast:	n/a	n/a
6	CTCF	chr2:133669500-133669650	HRPEpiC	eye:	n/a	n/a
7	CTCF	chr2:133669651-133669855	MCF-7	breast:	n/a	n/a
8	CTCF	chr2:133669660-133669810	GM12874	blood:	n/a	n/a
9	CTCF	chr2:133669530-133669869	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr2:133669686-133669786	GM19239	blood:	n/a	n/a
11	CTCF	chr2:133669674-133669847	GM19238	blood:	n/a	n/a
12	CTCF	chr2:133669780-133669930	MCF-7	breast:	n/a	n/a
13	CTCF	chr2:133669760-133669910	GM12873	blood:	n/a	n/a
14	CTCF	chr2:133669700-133669850	HEK293	kidney:	n/a	n/a
15	CTCF	chr2:133669620-133669770	HVMF	connective:	n/a	n/a
16	CTCF	chr2:133669743-133669772	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr2:133669672-133669786	SK-N-SH_RA	brain:	n/a	n/a
18	CTCF	chr2:133669682-133669842	A549	lung:	n/a	n/a
19	CTCF	chr2:133669700-133669850	BE2_C	brain:	n/a	n/a
20	CTCF	chr2:133669660-133669810	AG09319	gingival:	n/a	n/a
21	CTCF	chr2:133669700-133669850	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr2:133669680-133669830	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr2:133669680-133669830	AG04449	skin:	n/a	n/a
24	CTCF	chr2:133669660-133669810	Caco-2	colon:	n/a	n/a
25	CTCF	chr2:133669700-133669850	AG09319	gingival:	n/a	n/a
26	CTCF	chr2:133669660-133669810	GM12865	blood:	n/a	n/a
27	CTCF	chr2:133669620-133669770	RPTEC	kidney:	n/a	n/a
28	CTCF	chr2:133669640-133669790	HMEC	breast:	n/a	n/a
29	CTCF	chr2:133669740-133669890	AG04450	lung:	n/a	n/a
30	CTCF	chr2:133669660-133669810	AG04449	skin:	n/a	n/a
31	CTCF	chr2:133669680-133669830	HBMEC	blood vessel:	n/a	n/a
32	CTCF	chr2:133669705-133669824	NHEK	skin:	n/a	n/a
33	CTCF	chr2:133669780-133669930	NHLF	lung:	n/a	n/a
34	CTCF	chr2:133669640-133669790	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr2:133669600-133669750	AG10803	skin:	n/a	n/a
36	CTCF	chr2:133669683-133669771	GM19240	blood:	n/a	n/a
37	CTCF	chr2:133669670-133669820	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr2:133669719-133669766	Gliobla	brain:	n/a	n/a
39	CTCF	chr2:133669660-133669810	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr2:133669600-133669750	HA-sp	spinal cord:	n/a	n/a
41	CTCF	chr2:133669661-133669862	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr2:133669640-133669790	AG09309	skin:	n/a	n/a
43	CTCF	chr2:133669660-133669810	RPTEC	kidney:	n/a	n/a
44	CTCF	chr2:133669620-133669770	HAc	cerebellar:	n/a	n/a
45	CTCF	chr2:133669676-133669834	MCF-7	breast:	n/a	n/a
46	CTCF	chr2:133669740-133669890	HRE	kidney:	n/a	n/a
47	CTCF	chr2:133669600-133669750	HCM	heart:	n/a	n/a
48	CTCF	chr2:133669660-133669810	SK-N-SH_RA	brain:	n/a	n/a
49	CTCF	chr2:133669651-133669851	Fibrobl	skin:	n/a	n/a
50	CTCF	chr2:133676660-133676810	GM12869	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:133672682-133672732	MCF10A-Er-Src	breast:	n/a
2	chr2:133670347-133670397	MCF-7	breast:	n/a
3	chr2:133670347-133670397	CMK	blood:	n/a
4	chr2:133670347-133670397	PrEC	prostate:	n/a
5	chr2:133672682-133672732	AoSMC	blood vessel:	n/a
6	chr2:133672682-133672732	HepG2	liver:	n/a
7	chr2:133672682-133672732	HNPCEpiC	eye:	n/a
8	chr2:133670347-133670397	HRE	kidney:	n/a
9	chr2:133672682-133672732	ovcar-3	ovarian:	n/a
10	chr2:133672682-133672732	SKMC	muscle:	n/a
11	chr2:133672682-133672732	AG10803	skin:	n/a
12	chr2:133670347-133670397	AG10803	skin:	n/a
13	chr2:133670347-133670397	H1-hESC	embryonic stem cell:	embryo
14	chr2:133670347-133670397	ovcar-3	ovarian:	n/a
15	chr2:133670347-133670397	HCT-116	colon:	n/a
16	chr2:133670347-133670397	Caco-2	colon:	n/a
17	chr2:133670347-133670397	SKMC	muscle:	n/a
18	chr2:133670347-133670397	SK-N-SH_RA	brain:	n/a
19	chr2:133672682-133672732	T-47D	breast:	n/a
20	chr2:133672682-133672732	SK-N-MC	brain:	n/a
21	chr2:133672682-133672732	HRE	kidney:	n/a
22	chr2:133670347-133670397	GM12878	blood:	n/a
23	chr2:133672682-133672732	HEEpiC	esophagus:	n/a
24	chr2:133670347-133670397	NHBE	bronchial:	n/a
25	chr2:133670347-133670397	HIPEpiC	eye:	n/a
26	chr2:133672682-133672732	HRCEpiC	kidney:	n/a
27	chr2:133670347-133670397	T-47D	breast:	n/a
28	chr2:133672682-133672732	ECC-1	luminal epithelium:	n/a
29	chr2:133670347-133670397	HepG2	liver:	n/a
30	chr2:133672682-133672732	NT2-D1	testis:	n/a
31	chr2:133672682-133672732	LNCaP	prostate:	n/a
32	chr2:133670347-133670397	HCPEpiC	choroid plexus:	n/a
33	chr2:133670347-133670397	HCM	heart:	n/a
34	chr2:133672682-133672732	HUVEC	blood vessel:	n/a
35	chr2:133670347-133670397	HUVEC	blood vessel:	n/a
36	chr2:133672682-133672732	PrEC	prostate:	n/a
37	chr2:133670347-133670397	AG09319	gingival:	n/a
38	chr2:133670347-133670397	AG04450	lung:	fetal
39	chr2:133670347-133670397	BJ	skin:	n/a
40	chr2:133672682-133672732	HL-60	blood:	n/a
41	chr2:133670347-133670397	PANC-1	pancreas:	n/a
42	chr2:133670347-133670397	AG04449	skin:	fetal
43	chr2:133670347-133670397	HNPCEpiC	eye:	n/a
44	chr2:133672682-133672732	PFSK-1	brain:	n/a
45	chr2:133670347-133670397	GM06990	blood:	n/a
46	chr2:133670347-133670397	GM19239	blood:	n/a
47	chr2:133670347-133670397	U87	brain:	n/a
48	chr2:133670347-133670397	PFSK-1	brain:	n/a
49	chr2:133672682-133672732	HAEpiC	amniotic membrane:	n/a
50	chr2:133670347-133670397	MCF10A-Er-Src	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:133661857..133663730-chr2:133665052..133667903,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-3	chr2:133673130-133673224	ENSG00000233729.1

No data

Variant related genes	Relation type
ENSG00000228721	TF binding region
ENSG00000233729	TF binding region
ENSG00000228721	CpG island
ENSG00000233729	CpG island

Extended variants
information (count: 389 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7561777	chr2:133667285-133667286	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560071779	chr2:133667294-133667295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572080644	chr2:133667300-133667301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34746850	chr2:133667317-133667318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77149686	chr2:133667347-133667348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76117767	chr2:133667348-133667349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140650172	chr2:133667371-133667372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76258297	chr2:133667380-133667381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531354835	chr2:133667421-133667422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549671550	chr2:133667449-133667450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564874002	chr2:133667466-133667467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544224049	chr2:133667481-133667482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs202244678	chr2:133667513-133667514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145579315	chr2:133667537-133667538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561009149	chr2:133667557-133667558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551521258	chr2:133667606-133667607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566826716	chr2:133667617-133667618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534057599	chr2:133667645-133667646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549413205	chr2:133667671-133667672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192550834	chr2:133667701-133667702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547842980	chr2:133667712-133667713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530044693	chr2:133667718-133667719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538482949	chr2:133667737-133667738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556793492	chr2:133667796-133667797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148872280	chr2:133667955-133667956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536744057	chr2:133667983-133667984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553504221	chr2:133667984-133667985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571978489	chr2:133667996-133667997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4954007	chr2:133668018-133668019	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577021467	chr2:133668041-133668042	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs369239634	chr2:133668077-133668078	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs184322189	chr2:133668137-133668138	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs566282458	chr2:133668192-133668193	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs534761291	chr2:133668197-133668198	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs543256990	chr2:133668246-133668247	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs116247226	chr2:133668288-133668289	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs188060044	chr2:133668298-133668299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs547645572	chr2:133668384-133668385	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560291020	chr2:133668471-133668472	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs527646894	chr2:133668504-133668505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553224369	chr2:133668507-133668508	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs549389954	chr2:133668513-133668514	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs567808768	chr2:133668520-133668521	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs538320280	chr2:133668543-133668544	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs550430354	chr2:133668558-133668559	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs142597767	chr2:133668588-133668589	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs192642197	chr2:133668594-133668595	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs11893302	chr2:133668602-133668603	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs146460040	chr2:133668610-133668611	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs536283691	chr2:133668620-133668621	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Oral cancer	21386901	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133652600-133668400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:133661400-133668000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:133666600-133667600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:133666600-133669200	Weak transcription	Adipose Nuclei	Adipose
5	chr2:133666800-133667600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:133667000-133667400	Enhancers	NHDF-Ad	bronchial
7	chr2:133667200-133681600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:133667600-133669600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:133667600-133673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:133668000-133668800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:133668400-133668600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:133668600-133669400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:133668800-133676400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:133669200-133669800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:133669200-133669800	Enhancers	Adipose Nuclei	Adipose
16	chr2:133669200-133669800	Enhancers	Colon Smooth Muscle	Colon
17	chr2:133669200-133669800	Enhancers	Fetal Lung	lung
18	chr2:133669200-133670200	Enhancers	Fetal Stomach	stomach
19	chr2:133669400-133669800	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:133669400-133669800	Enhancers	Lung	lung
21	chr2:133669400-133670200	Enhancers	Fetal Muscle Leg	muscle
22	chr2:133669400-133670400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:133669600-133670400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:133669800-133672600	Weak transcription	Adipose Nuclei	Adipose
25	chr2:133669800-133672800	Weak transcription	Fetal Lung	lung
26	chr2:133669800-133672800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:133670200-133672800	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:133670400-133672600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:133670400-133673400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:133672200-133673600	Enhancers	Fetal Heart	heart
31	chr2:133672600-133673000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:133672600-133674200	Enhancers	Adipose Nuclei	Adipose
33	chr2:133672800-133673000	Enhancers	Lung	lung
34	chr2:133672800-133673200	Enhancers	Fetal Muscle Trunk	muscle
35	chr2:133672800-133673400	Enhancers	Fetal Muscle Leg	muscle
36	chr2:133672800-133673400	Enhancers	Right Atrium	heart
37	chr2:133672800-133674000	Enhancers	Fetal Lung	lung
38	chr2:133672800-133674000	Enhancers	Right Ventricle	heart
39	chr2:133672800-133674400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:133673000-133674200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:133673000-133681000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:133673200-133674000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:133673400-133674000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:133673600-133688800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:133673800-133674000	Enhancers	Lung	lung
46	chr2:133674000-133676400	Weak transcription	Fetal Lung	lung
47	chr2:133676400-133676800	Enhancers	Fetal Lung	lung
48	chr2:133676400-133677800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:133676800-133679800	Weak transcription	Fetal Lung	lung
50	chr2:133677800-133682000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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