Variant report

Variant	esv1817572
Chromosome Location	chr2:126413866-126482366
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	BACH1	chr2:126458688-126458954	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:126458745-126458939	K562	blood:	n/a	n/a
3	BATF	chr2:126416133-126416550	GM12878	blood:	n/a	chr2:126416326-126416337
4	CEBPB	chr2:126457190-126457461	HepG2	liver:	n/a	chr2:126457350-126457363 chr2:126457351-126457362
5	CEBPB	chr2:126462893-126463185	A549	lung:	n/a	chr2:126463016-126463027
6	CEBPB	chr2:126462587-126463186	IMR90	lung:	n/a	chr2:126462632-126462645 chr2:126463016-126463027
7	CEBPB	chr2:126459761-126460068	HepG2	liver:	n/a	chr2:126459891-126459902
8	CEBPB	chr2:126459757-126460046	Hela-S3	cervix:	n/a	chr2:126459891-126459902
9	CEBPB	chr2:126471303-126471454	K562	blood:	n/a	chr2:126471330-126471343 chr2:126471331-126471342
10	CEBPB	chr2:126471269-126471529	Hela-S3	cervix:	n/a	chr2:126471330-126471343 chr2:126471331-126471342
11	CEBPB	chr2:126430155-126430949	Hela-S3	cervix:	n/a	chr2:126430336-126430347
12	CEBPB	chr2:126430277-126430417	H1-hESC	embryonic stem cell:	n/a	chr2:126430336-126430347
13	CEBPB	chr2:126462938-126463121	H1-hESC	embryonic stem cell:	n/a	chr2:126463016-126463027
14	CEBPB	chr2:126462546-126463195	HepG2	liver:	n/a	chr2:126462632-126462645 chr2:126463016-126463027
15	CEBPB	chr2:126471197-126471524	HepG2	liver:	n/a	chr2:126471330-126471343 chr2:126471331-126471342
16	CEBPB	chr2:126457168-126457434	A549	lung:	n/a	chr2:126457350-126457363 chr2:126457351-126457362
17	CEBPB	chr2:126471296-126471475	A549	lung:	n/a	chr2:126471330-126471343 chr2:126471331-126471342
18	CEBPB	chr2:126459773-126460015	A549	lung:	n/a	chr2:126459891-126459902
19	CEBPB	chr2:126425512-126425665	HepG2	liver:	n/a	chr2:126425629-126425640
20	CEBPB	chr2:126456504-126456579	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:126471204-126471522	H1-hESC	embryonic stem cell:	n/a	chr2:126471330-126471343 chr2:126471331-126471342
22	CEBPB	chr2:126464113-126464382	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:126430195-126430582	HepG2	liver:	n/a	chr2:126430336-126430347
24	CHD2	chr2:126437689-126437846	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr2:126413840-126413990	HEK293	kidney:	n/a	chr2:126413952-126413962
26	CTCF	chr2:126413860-126414010	GM12873	blood:	n/a	chr2:126413952-126413962
27	CTCF	chr2:126413945-126413972	Hela-S3	cervix:	n/a	chr2:126413952-126413962
28	CTCF	chr2:126463740-126463890	GM12866	blood:	n/a	n/a
29	CTCF	chr2:126413900-126414050	GM12865	blood:	n/a	chr2:126413952-126413962
30	CTCF	chr2:126481200-126481350	GM12871	blood:	n/a	n/a
31	CTCF	chr2:126413853-126414027	K562	blood:	n/a	chr2:126413952-126413962
32	CTCF	chr2:126416670-126416726	Fibrobl	skin:	n/a	n/a
33	CTCF	chr2:126460860-126461010	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr2:126414100-126414250	GM12872	blood:	n/a	n/a
35	CTCF	chr2:126413818-126414089	GM12878	blood:	n/a	chr2:126413952-126413962
36	CTCF	chr2:126456540-126456690	GM12867	blood:	n/a	n/a
37	CTCF	chr2:126413840-126413990	WERI-Rb-1	eye:	n/a	chr2:126413952-126413962
38	CTCF	chr2:126413883-126413979	GM13977	blood:	n/a	chr2:126413952-126413962
39	CTCF	chr2:126413900-126414050	WERI-Rb-1	eye:	n/a	chr2:126413952-126413962
40	CTCF	chr2:126413910-126413999	Medullo	brain:	n/a	chr2:126413952-126413962
41	CTCF	chr2:126413884-126413997	GM12878	blood:	n/a	chr2:126413952-126413962
42	CTCF	chr2:126413880-126414030	GM12869	blood:	n/a	chr2:126413952-126413962
43	CTCF	chr2:126413840-126413990	HL-60	blood:	n/a	chr2:126413952-126413962
44	CTCF	chr2:126435289-126435369	GM13976	blood:	n/a	n/a
45	CTCF	chr2:126413860-126414010	K562	blood:	n/a	chr2:126413952-126413962
46	CTCF	chr2:126413911-126414023	HepG2	liver:	n/a	chr2:126413952-126413962
47	CTCF	chr2:126413880-126414030	GM12875	blood:	n/a	chr2:126413952-126413962
48	CTCF	chr2:126413860-126414010	HEK293	kidney:	n/a	chr2:126413952-126413962
49	CTCF	chr2:126413860-126414010	GM06990	blood:	n/a	chr2:126413952-126413962
50	CTCF	chr2:126413880-126414030	HepG2	liver:	n/a	chr2:126413952-126413962

No.	Distal block	Cell Line	Cell type
1	chr2:126412945..126415071-chr2:126417219..126419546,2	K562	blood:
2	chr2:126441721..126443799-chr2:126451980..126453632,2	K562	blood:
3	chr2:126441149..126442866-chr2:126450432..126451944,2	K562	blood:
4	chr2:126412945..126415071-chr2:126417219..126419546,2	K562	blood:
5	chr2:126423393..126427272-chr2:126428665..126431892,3	K562	blood:
6	chr2:126475681..126477438-chr2:126478103..126480608,2	K562	blood:
7	chr2:126413571..126415580-chr2:126417629..126419546,2	K562	blood:
8	chr2:126413571..126415580-chr2:126417629..126419546,2	K562	blood:
9	chr2:126475681..126477438-chr2:126478103..126480608,2	K562	blood:
10	chr2:126480919..126482425-chr2:126537842..126540403,2	K562	blood:
11	chr2:126441721..126443799-chr2:126451980..126453632,2	K562	blood:
12	chr2:126423393..126427272-chr2:126428665..126431892,3	K562	blood:
13	chr2:126441149..126442866-chr2:126450432..126451944,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CNTNAP5-2	chr2:126456152-126456276	FPKM1_group_17139_transcript_1
2	lnc-CNTNAP5-2	chr2:126456152-126456276	NONHSAT074117
3	lnc-CNTNAP5-3	chr2:126468546-126468947	XLOC_001657
4	lnc-BIN1-3	chr2:126464386-126464754	NONHSAT074119
5	lnc-BIN1-3	chr2:126464387-126464754	XLOC_002307
6	lnc-CNTNAP5-3	chr2:126468545-126468947	NONHSAT074121
7	lnc-CNTNAP5-2	chr2:126474462-126474592	NONHSAT074117
8	lnc-CNTNAP5-2	chr2:126457983-126458113	FPKM1_group_17139_transcript_1

Variant related genes	Relation type
ENSG00000235491	TF binding region
KCNC4	miRNA target sites

Extended variants
information (count: 1764 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1764 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3980630	chr2:126413866-126413867	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575189788	chr2:126413892-126413893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185973240	chr2:126413959-126413960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560795406	chr2:126413961-126413962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73953959	chr2:126413975-126413976	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374786893	chr2:126413977-126413978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539902734	chr2:126414023-126414024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554344514	chr2:126414050-126414051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531986119	chr2:126414066-126414067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59775059	chr2:126414086-126414087	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs6742778	chr2:126414092-126414093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs532088537	chr2:126414120-126414121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548898956	chr2:126414135-126414136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568625988	chr2:126414198-126414199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs141044769	chr2:126414206-126414207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572465333	chr2:126414215-126414216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570950611	chr2:126414216-126414217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190485323	chr2:126414235-126414236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373580256	chr2:126414251-126414252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78222604	chr2:126414259-126414260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs72612000	chr2:126414302-126414303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs147453487	chr2:126414325-126414326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183426059	chr2:126414378-126414379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574261349	chr2:126414382-126414383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139916980	chr2:126414399-126414400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559972601	chr2:126414482-126414483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150009343	chr2:126414506-126414507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545477982	chr2:126414585-126414586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557217723	chr2:126414586-126414587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562418728	chr2:126414630-126414631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374254201	chr2:126414650-126414651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113463056	chr2:126414657-126414658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574317038	chr2:126414659-126414660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568792817	chr2:126414719-126414720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149075682	chr2:126414725-126414726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187408319	chr2:126414737-126414738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191872377	chr2:126414776-126414777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1863683	chr2:126414779-126414780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371169769	chr2:126415041-126415042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6746555	chr2:126415098-126415099	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569674944	chr2:126415119-126415120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142176716	chr2:126415121-126415122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554418943	chr2:126415191-126415192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75620720	chr2:126415229-126415230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574420903	chr2:126415258-126415259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542779229	chr2:126415342-126415343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182914637	chr2:126415347-126415348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553977665	chr2:126415359-126415360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367828461	chr2:126415406-126415407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146734029	chr2:126415411-126415412	Weak 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
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	18451855	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126410200-126422400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:126415000-126415400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr2:126422400-126422800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:126422800-126424600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:126427800-126428200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:126437200-126437600	Enhancers	Adipose Nuclei	Adipose
7	chr2:126437200-126438600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:126437600-126438000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:126437600-126438600	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr2:126437800-126438200	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr2:126437800-126438200	Enhancers	Hela-S3	cervix
12	chr2:126438000-126438600	Enhancers	Colonic Mucosa	Colon
13	chr2:126438000-126439200	Enhancers	Brain Substantia Nigra	brain
14	chr2:126438200-126438400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:126438200-126438600	Enhancers	Brain Anterior Caudate	brain
16	chr2:126438200-126439400	Enhancers	Brain Hippocampus Middle	brain
17	chr2:126438400-126439400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:126438600-126439000	Enhancers	Adipose Nuclei	Adipose
19	chr2:126438600-126440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:126438800-126439200	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:126439000-126439400	Weak transcription	Adipose Nuclei	Adipose
22	chr2:126439400-126440800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr2:126439400-126441200	Enhancers	Adipose Nuclei	Adipose
24	chr2:126440000-126440200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:126440600-126441400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:126441400-126443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:126441600-126443200	Enhancers	GM12878-XiMat	blood
28	chr2:126442800-126443200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:126443000-126443200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:126451800-126453200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:126453800-126454200	Enhancers	Brain Substantia Nigra	brain
32	chr2:126453800-126454600	Enhancers	Brain Hippocampus Middle	brain
33	chr2:126454000-126455200	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr2:126454000-126455200	Enhancers	Hela-S3	cervix
35	chr2:126454200-126455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:126462200-126463000	Enhancers	Brain Germinal Matrix	brain
37	chr2:126463000-126466200	Weak transcription	Brain Germinal Matrix	brain
38	chr2:126466200-126466400	Enhancers	Brain Germinal Matrix	brain
39	chr2:126466600-126467200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:126467200-126470600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:126470600-126471600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:126471600-126472800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:126472800-126473000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:126473000-126478600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:126478600-126478800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:126478600-126479000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr2:126478800-126484600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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