Variant report

Variant	esv2759089
Chromosome Location	chr2:127033017-127161094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:602)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:127065747-127066188	K562	blood:	n/a	n/a
2	ARID3A	chr2:127066469-127066679	K562	blood:	n/a	n/a
3	ATF1	chr2:127064282-127064489	K562	blood:	n/a	n/a
4	BACH1	chr2:127075317-127075498	K562	blood:	n/a	n/a
5	BACH1	chr2:127075391-127075602	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr2:127065682-127066113	K562	blood:	n/a	n/a
7	BCLAF1	chr2:127065316-127065670	K562	blood:	n/a	n/a
8	BHLHE40	chr2:127033610-127033850	K562	blood:	n/a	n/a
9	BHLHE40	chr2:127065741-127066125	K562	blood:	n/a	n/a
10	BHLHE40	chr2:127075445-127075735	K562	blood:	n/a	n/a
11	BHLHE40	chr2:127064008-127064022	GM12878	blood:	n/a	n/a
12	CBX3	chr2:127065583-127066431	K562	blood:	n/a	n/a
13	CBX3	chr2:127143642-127143837	K562	blood:	n/a	n/a
14	CBX3	chr2:127065714-127066235	K562	blood:	n/a	n/a
15	CEBPB	chr2:127119708-127119963	IMR90	lung:	n/a	chr2:127119845-127119856
16	CEBPB	chr2:127063647-127063941	IMR90	lung:	n/a	chr2:127063777-127063788
17	CEBPB	chr2:127065583-127066241	K562	blood:	n/a	chr2:127065977-127065988
18	CEBPB	chr2:127086966-127086975	K562	blood:	n/a	n/a
19	CEBPB	chr2:127150498-127150797	A549	lung:	n/a	chr2:127150653-127150664 chr2:127150653-127150666 chr2:127150655-127150664
20	CEBPB	chr2:127032728-127033056	K562	blood:	n/a	n/a
21	CEBPB	chr2:127032720-127033055	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:127150479-127150824	K562	blood:	n/a	chr2:127150653-127150664 chr2:127150653-127150666 chr2:127150655-127150664
23	CEBPB	chr2:127065896-127066112	HepG2	liver:	n/a	chr2:127065977-127065988
24	CEBPB	chr2:127126024-127126144	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr2:127063571-127063887	K562	blood:	n/a	chr2:127063777-127063788
26	CEBPB	chr2:127119685-127120006	HepG2	liver:	n/a	chr2:127119845-127119856
27	CEBPB	chr2:127087396-127087575	A549	lung:	n/a	n/a
28	CEBPB	chr2:127063671-127063932	H1-hESC	embryonic stem cell:	n/a	chr2:127063777-127063788
29	CEBPB	chr2:127074291-127074511	HepG2	liver:	n/a	chr2:127074350-127074359 chr2:127074348-127074359 chr2:127074350-127074361 chr2:127074348-127074361
30	CEBPB	chr2:127063629-127063966	HepG2	liver:	n/a	chr2:127063777-127063788
31	CEBPB	chr2:127038381-127038408	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr2:127074277-127074503	K562	blood:	n/a	chr2:127074350-127074359 chr2:127074348-127074359 chr2:127074350-127074361 chr2:127074348-127074361
33	CEBPB	chr2:127032653-127033111	K562	blood:	n/a	n/a
34	CEBPB	chr2:127119703-127119985	A549	lung:	n/a	chr2:127119845-127119856
35	CEBPB	chr2:127150478-127150841	IMR90	lung:	n/a	chr2:127150653-127150664 chr2:127150653-127150666 chr2:127150655-127150664
36	CEBPB	chr2:127058719-127058901	HepG2	liver:	n/a	chr2:127058794-127058805
37	CEBPB	chr2:127150489-127150835	HepG2	liver:	n/a	chr2:127150653-127150664 chr2:127150653-127150666 chr2:127150655-127150664
38	CEBPB	chr2:127081394-127081594	HepG2	liver:	n/a	chr2:127081501-127081512
39	CEBPB	chr2:127063596-127063981	K562	blood:	n/a	chr2:127063777-127063788
40	CEBPB	chr2:127087349-127087542	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr2:127086850-127087060	HepG2	liver:	n/a	chr2:127086928-127086941 chr2:127086928-127086939 chr2:127086928-127086941
42	CEBPB	chr2:127087374-127087656	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:127065602-127066277	K562	blood:	n/a	chr2:127065977-127065988
44	CEBPB	chr2:127057246-127057328	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:127063662-127063938	A549	lung:	n/a	chr2:127063777-127063788
46	CEBPB	chr2:127075447-127075668	K562	blood:	n/a	n/a
47	CEBPB	chr2:127065788-127066123	K562	blood:	n/a	chr2:127065977-127065988
48	CEBPB	chr2:127058714-127058795	A549	lung:	n/a	n/a
49	CEBPB	chr2:127032685-127033063	K562	blood:	n/a	n/a
50	CEBPB	chr2:127087352-127087644	IMR90	lung:	n/a	n/a

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:127128119..127130553-chr2:127133344..127135685,2	K562	blood:
2	chr2:127048776..127051434-chr2:127053138..127055273,2	K562	blood:
3	chr2:127099095..127101235-chr2:127110027..127111847,2	K562	blood:
4	chr2:127092246..127093752-chr2:127093962..127095465,2	K562	blood:
5	chr2:127120628..127123970-chr2:127125032..127127562,3	K562	blood:
6	chr2:127048911..127050723-chr2:127064487..127067288,2	K562	blood:
7	chr2:127104723..127106353-chr2:127106513..127108173,2	K562	blood:
8	chr2:127120628..127123970-chr2:127125032..127127562,3	K562	blood:
9	chr2:127047421..127050381-chr2:127057655..127059904,2	K562	blood:
10	chr2:127048776..127051434-chr2:127053138..127055273,2	K562	blood:
11	chr2:127041438..127045671-chr2:127046702..127049174,3	K562	blood:
12	chr2:127027671..127029245-chr2:127034455..127036337,2	K562	blood:
13	chr2:127049240..127051434-chr2:127053138..127056030,2	K562	blood:
14	chr2:127068458..127070038-chr2:127101738..127103959,2	K562	blood:
15	chr2:127047489..127050410-chr2:127061477..127063111,3	K562	blood:
16	chr2:127120628..127123048-chr2:127125032..127126984,2	K562	blood:
17	chr2:127092246..127093752-chr2:127093962..127095465,2	K562	blood:
18	chr2:127027458..127030124-chr2:127074150..127076122,2	K562	blood:
19	chr2:127077598..127081190-chr2:127081547..127085586,3	K562	blood:
20	chr2:127116837..127117617-chr2:127534917..127535528,2	MCF-7	breast:
21	chr2:127077598..127081190-chr2:127081547..127085586,3	K562	blood:
22	chr2:127040484..127043318-chr2:127048128..127049666,2	K562	blood:
23	chr2:127104723..127106353-chr2:127106513..127108173,2	K562	blood:
24	chr2:127069123..127070890-chr2:127079088..127081471,2	K562	blood:
25	chr2:127099095..127101235-chr2:127110027..127111847,2	K562	blood:
26	chr2:127047834..127050586-chr2:127064392..127067288,3	K562	blood:
27	chr2:127047489..127050410-chr2:127061477..127063111,3	K562	blood:
28	chr2:127027819..127029825-chr2:127044636..127047534,2	K562	blood:
29	chr2:127047421..127050381-chr2:127057655..127059904,2	K562	blood:
30	chr2:127049240..127051434-chr2:127053138..127056030,2	K562	blood:
31	chr2:127067247..127071190-chr2:127077622..127082777,4	K562	blood:
32	chr2:127120628..127123048-chr2:127125032..127126984,2	K562	blood:
33	chr2:127066669..127069637-chr2:127074949..127077598,2	K562	blood:
34	chr2:127040484..127043318-chr2:127048128..127049666,2	K562	blood:
35	chr2:127128119..127130553-chr2:127133344..127135685,2	K562	blood:
36	chr2:127041438..127045671-chr2:127046702..127049174,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GYPC-2	chr2:127101339-127101569	ENSG00000235774
2	lnc-BIN1-8	chr2:127069043-127069504	NONHSAT074128
3	lnc-GYPC-2	chr2:127069791-127071117	NONHSAT074129
4	lnc-GYPC-2	chr2:127066087-127066222	ENSG00000235774
5	lnc-GYPC-2	chr2:127069878-127070114	ENSG00000235774
6	lnc-GYPC-2	chr2:127086394-127086709	NONHSAT074129

No data

Variant related genes	Relation type
ENSG00000236655	TF binding region
ENSG00000235774	TF binding region
ENSG00000236655	chromatin interactions
ENSG00000235774	chromatin interactions

Extended variants
information (count: 2614 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:2614 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114086474	chr2:127033111-127033112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553427516	chr2:127033181-127033182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370650452	chr2:127033182-127033183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532434703	chr2:127033223-127033224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545092734	chr2:127033250-127033251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566892943	chr2:127033302-127033303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34745177	chr2:127033305-127033306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140605441	chr2:127033368-127033369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568980101	chr2:127033388-127033389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72965910	chr2:127033394-127033395	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs182139201	chr2:127038213-127038214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs360231	chr2:127038276-127038277	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs531650844	chr2:127038293-127038294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111916448	chr2:127038317-127038318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140390067	chr2:127038322-127038323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567602602	chr2:127038357-127038358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150389350	chr2:127038358-127038359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs137887934	chr2:127038391-127038392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567033725	chr2:127038395-127038396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558662044	chr2:127038442-127038443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186056340	chr2:127038447-127038448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558740303	chr2:127038452-127038453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143380743	chr2:127038501-127038502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77841733	chr2:127038512-127038513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115245345	chr2:127038525-127038526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574388272	chr2:127038568-127038569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192164301	chr2:127038573-127038574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577514132	chr2:127038591-127038592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183937011	chr2:127038614-127038615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188505719	chr2:127038665-127038666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545982856	chr2:127038700-127038701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147145516	chr2:127038715-127038716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138696151	chr2:127038720-127038721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2128875	chr2:127038741-127038742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548544547	chr2:127038761-127038762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567636511	chr2:127038777-127038778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530069295	chr2:127038858-127038859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs546995235	chr2:127038869-127038870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs566816910	chr2:127038870-127038871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538756408	chr2:127038878-127038879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149273516	chr2:127038890-127038891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569155261	chr2:127038926-127038927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144332410	chr2:127038945-127038946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs79256962	chr2:127038947-127038948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs10190459	chr2:127038974-127038975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574351011	chr2:127038995-127038996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192174111	chr2:127038996-127038997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532442702	chr2:127044228-127044229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181995428	chr2:127044230-127044231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565258445	chr2:127044253-127044254	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127032400-127033400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:127032600-127033400	Enhancers	K562	blood
3	chr2:127038200-127039000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:127044200-127046000	Weak transcription	K562	blood
5	chr2:127045400-127046000	Active TSS	Gastric	stomach
6	chr2:127046000-127046200	Enhancers	K562	blood
7	chr2:127046200-127055400	Weak transcription	K562	blood
8	chr2:127055400-127055600	Enhancers	K562	blood
9	chr2:127055600-127059400	Weak transcription	K562	blood
10	chr2:127059400-127060000	Strong transcription	K562	blood
11	chr2:127059600-127061000	Enhancers	Fetal Lung	lung
12	chr2:127059600-127061600	Enhancers	Fetal Heart	heart
13	chr2:127059800-127061200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:127060000-127060400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:127060000-127062000	Weak transcription	K562	blood
16	chr2:127060200-127061000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:127060400-127063800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:127062000-127062800	Enhancers	K562	blood
19	chr2:127062800-127063000	Flanking Active TSS	K562	blood
20	chr2:127063000-127063600	Active TSS	K562	blood
21	chr2:127063600-127064800	Flanking Active TSS	K562	blood
22	chr2:127063800-127064000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:127063800-127064400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:127063800-127064600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:127063800-127064600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:127063800-127064600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:127063800-127064800	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:127063800-127066200	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:127064000-127064600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:127064000-127065600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:127064400-127069800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr2:127064600-127065400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:127064600-127065600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:127064600-127069600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:127064600-127070400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr2:127064800-127067400	Active TSS	K562	blood
37	chr2:127064800-127069800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:127065400-127066000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr2:127065600-127065800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:127065600-127066000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr2:127065600-127066000	Enhancers	Lung	lung
42	chr2:127065600-127066200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:127065800-127066000	ZNF genes & repeats	Gastric	stomach
44	chr2:127066000-127069600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr2:127066000-127069800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr2:127066200-127069600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:127066200-127070600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:127067400-127068000	Weak transcription	K562	blood
49	chr2:127068000-127068200	Enhancers	K562	blood
50	chr2:127068200-127068800	Weak transcription	K562	blood

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