Variant report

Variant	nsv979297
Chromosome Location	chr2:126869718-126879016
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FAM48A	chr2:126870171-126870215	GM12878	blood:	n/a	n/a
2	JUND	chr2:126875562-126875864	HepG2	liver:	n/a	chr2:126875793-126875802 chr2:126875794-126875803 chr2:126875794-126875802 chr2:126875642-126875651 chr2:126875795-126875802
3	MYC	chr2:126877361-126877423	MCF10A-Er-Src	breast:	n/a	n/a
4	MYC	chr2:126877578-126877739	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:126874891-126875392	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr2:126873791-126873868	Gliobla	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:126874175-126874225	NT2-D1	testis:	n/a
2	chr2:126874175-126874225	Caco-2	colon:	n/a
3	chr2:126874175-126874225	RPTEC	kidney:	n/a
4	chr2:126874175-126874225	MCF10A-Er-Src	breast:	n/a
5	chr2:126874175-126874225	SKMC	muscle:	n/a
6	chr2:126874175-126874225	PrEC	prostate:	n/a
7	chr2:126874175-126874225	T-47D	breast:	n/a
8	chr2:126874175-126874225	SK-N-SH_RA	brain:	n/a
9	chr2:126874175-126874225	SK-N-MC	brain:	n/a
10	chr2:126874175-126874225	BE2_C	brain:	n/a
11	chr2:126874175-126874225	NHBE	bronchial:	n/a
12	chr2:126874175-126874225	Hela-S3	cervix:	n/a
13	chr2:126874175-126874225	CMK	blood:	n/a
14	chr2:126874175-126874225	HEK293	kidney:	embryo
15	chr2:126874175-126874225	HRCEpiC	kidney:	n/a
16	chr2:126874175-126874225	BJ	skin:	n/a
17	chr2:126874175-126874225	HCPEpiC	choroid plexus:	n/a
18	chr2:126874175-126874225	HNPCEpiC	eye:	n/a
19	chr2:126874175-126874225	GM06990	blood:	n/a
20	chr2:126874175-126874225	AG04449	skin:	fetal
21	chr2:126874175-126874225	AG10803	skin:	n/a
22	chr2:126874175-126874225	LNCaP	prostate:	n/a
23	chr2:126874175-126874225	GM19239	blood:	n/a
24	chr2:126874175-126874225	A549	lung:	n/a
25	chr2:126874175-126874225	AG09309	skin:	n/a
26	chr2:126874175-126874225	ovcar-3	ovarian:	n/a
27	chr2:126874175-126874225	ProgFib	skin:	n/a
28	chr2:126874175-126874225	GM12878	blood:	n/a
29	chr2:126874175-126874225	K562	blood:	n/a
30	chr2:126874175-126874225	GM12892	blood:	n/a
31	chr2:126874175-126874225	SK-N-SH	brain:	n/a
32	chr2:126874175-126874225	HCT-116	colon:	n/a
33	chr2:126874175-126874225	HMEC	breast:	n/a
34	chr2:126874175-126874225	PANC-1	pancreas:	n/a
35	chr2:126874175-126874225	H1-hESC	embryonic stem cell:	embryo
36	chr2:126874175-126874225	HepG2	liver:	n/a
37	chr2:126874175-126874225	Jurkat	blood:	n/a
38	chr2:126874175-126874225	HEEpiC	esophagus:	n/a
39	chr2:126874175-126874225	HIPEpiC	eye:	n/a
40	chr2:126874175-126874225	PFSK-1	brain:	n/a
41	chr2:126874175-126874225	U87	brain:	n/a
42	chr2:126874175-126874225	HCF	heart:	n/a
43	chr2:126874175-126874225	HRE	kidney:	n/a
44	chr2:126874175-126874225	IMR90	lung:	fetal
45	chr2:126874175-126874225	HRPEpiC	eye:	n/a
46	chr2:126874175-126874225	HCM	heart:	n/a
47	chr2:126874175-126874225	HL-60	blood:	n/a
48	chr2:126874175-126874225	SAEC	small airway:	n/a
49	chr2:126874175-126874225	HUVEC	blood vessel:	n/a
50	chr2:126874175-126874225	NH-A	brain:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BIN1-2	chr2:126871594-126871704	XLOC_002308
2	lnc-BIN1-2	chr2:126875500-126875562	XLOC_002308
3	lnc-BIN1-2	chr2:126870510-126870747	XLOC_002308

No data

Variant related genes	Relation type
ENSG00000226813	TF binding region
ENSG00000226813	CpG island

Extended variants
information (count: 79 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559712725	chr2:126870512-126870513	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs62159683	chr2:126870558-126870559	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553455370	chr2:126870596-126870597	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs117849071	chr2:126870628-126870629	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs186720286	chr2:126870633-126870634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs77177574	chr2:126870669-126870670	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs192015953	chr2:126870675-126870676	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs551480070	chr2:126870705-126870706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs182880435	chr2:126870711-126870712	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs138239371	chr2:126871602-126871603	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs558270941	chr2:126871628-126871629	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs543376987	chr2:126871663-126871664	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs575278404	chr2:126871670-126871671	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs149310777	chr2:126873032-126873033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189890935	chr2:126873055-126873056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548206397	chr2:126873108-126873109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530707196	chr2:126873114-126873115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567809398	chr2:126873115-126873116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191100775	chr2:126873194-126873195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs72863510	chr2:126873233-126873234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs144590864	chr2:126873295-126873296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148490174	chr2:126873384-126873385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200249123	chr2:126873402-126873403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs72977445	chr2:126873403-126873404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550199707	chr2:126873404-126873405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554918460	chr2:126873446-126873447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs60666568	chr2:126873448-126873449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183613092	chr2:126873450-126873451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556196880	chr2:126873463-126873464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142704536	chr2:126873497-126873498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs71413436	chr2:126873511-126873512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147554501	chr2:126873516-126873517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs115584895	chr2:126873533-126873534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529896873	chr2:126873545-126873546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574971133	chr2:126873552-126873553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375470569	chr2:126873571-126873572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs540744856	chr2:126873572-126873573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79496009	chr2:126873598-126873599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532599554	chr2:126873609-126873610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188318583	chr2:126873624-126873625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs563028426	chr2:126873684-126873685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181831760	chr2:126873689-126873690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370009391	chr2:126873703-126873704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566120629	chr2:126873709-126873710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187582077	chr2:126873860-126873861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538293770	chr2:126873886-126873887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547760612	chr2:126873903-126873904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189873257	chr2:126873983-126873984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551831634	chr2:126874013-126874014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527359599	chr2:126874044-126874045	Enhancers	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126873000-126874200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:126873200-126874000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:126873200-126874200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr2:126873200-126874200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:126873200-126874200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:126873400-126874000	Enhancers	H1 Cell Line	embryonic stem cell
7	chr2:126873400-126874000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:126873400-126874000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:126873400-126874200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:126873400-126874200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr2:126873600-126874000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:126873600-126874600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:126873600-126874600	Enhancers	Brain Germinal Matrix	brain

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