Variant report

Variant	nsv875008
Chromosome Location	chr2:127426754-127436469
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	ARID3A	chr2:127431270-127432113	K562	blood:	n/a	n/a
2	BCL3	chr2:127434589-127435177	GM12878	blood:	n/a	n/a
3	BCL3	chr2:127434513-127435247	GM12878	blood:	n/a	n/a
4	BCL3	chr2:127431489-127432150	K562	blood:	n/a	chr2:127431799-127431806 chr2:127431761-127431768 chr2:127432056-127432069
5	BHLHE40	chr2:127431316-127431977	K562	blood:	n/a	n/a
6	BHLHE40	chr2:127434883-127434932	K562	blood:	n/a	n/a
7	BRCA1	chr2:127434746-127434749	GM12878	blood:	n/a	n/a
8	CBX3	chr2:127434326-127434831	K562	blood:	n/a	n/a
9	CBX3	chr2:127432901-127433637	K562	blood:	n/a	n/a
10	CBX3	chr2:127431212-127432602	K562	blood:	n/a	n/a
11	CBX3	chr2:127433109-127433587	K562	blood:	n/a	n/a
12	CBX3	chr2:127431600-127431982	K562	blood:	n/a	n/a
13	CCNT2	chr2:127431572-127432099	K562	blood:	n/a	chr2:127431796-127431816
14	CEBPB	chr2:127427335-127427633	K562	blood:	n/a	chr2:127427482-127427493
15	CEBPB	chr2:127427459-127427573	HepG2	liver:	n/a	chr2:127427482-127427493
16	CEBPB	chr2:127427463-127427579	A549	lung:	n/a	chr2:127427482-127427493
17	CEBPB	chr2:127431566-127431956	K562	blood:	n/a	n/a
18	CEBPB	chr2:127427442-127427534	IMR90	lung:	n/a	chr2:127427482-127427493
19	CEBPD	chr2:127431478-127432102	K562	blood:	n/a	n/a
20	CEBPD	chr2:127431465-127432099	K562	blood:	n/a	n/a
21	CHD2	chr2:127431522-127431995	K562	blood:	n/a	n/a
22	CREB1	chr2:127431461-127432093	K562	blood:	n/a	n/a
23	CTCF	chr2:127432080-127432230	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr2:127432126-127432201	MCF-7	breast:	n/a	n/a
25	CTCF	chr2:127431978-127432234	K562	blood:	n/a	n/a
26	CTCF	chr2:127431757-127432329	K562	blood:	n/a	n/a
27	CTCF	chr2:127431937-127432327	K562	blood:	n/a	n/a
28	CTCF	chr2:127432080-127432230	K562	blood:	n/a	n/a
29	CTCF	chr2:127432080-127432230	GM12871	blood:	n/a	n/a
30	CTCF	chr2:127431846-127432362	K562	blood:	n/a	n/a
31	CTCF	chr2:127432098-127432204	MCF-7	breast:	n/a	n/a
32	CTCF	chr2:127432100-127432250	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr2:127432076-127432256	K562	blood:	n/a	n/a
34	CTCF	chr2:127432081-127432212	MCF-7	breast:	n/a	n/a
35	CUX1	chr2:127431610-127432019	K562	blood:	n/a	n/a
36	E2F4	chr2:127431616-127431798	MCF10A-Er-Src	breast:	n/a	n/a
37	E2F6	chr2:127431679-127431918	K562	blood:	n/a	n/a
38	EGR1	chr2:127431629-127431999	K562	blood:	n/a	n/a
39	ELF1	chr2:127434282-127434753	K562	blood:	n/a	n/a
40	EP300	chr2:127431663-127431962	K562	blood:	n/a	n/a
41	EP300	chr2:127431503-127432286	K562	blood:	n/a	n/a
42	EP300	chr2:127434386-127434860	K562	blood:	n/a	n/a
43	ETS1	chr2:127431556-127432035	K562	blood:	n/a	chr2:127432005-127432019
44	ETS1	chr2:127431702-127431957	K562	blood:	n/a	n/a
45	GABPA	chr2:127431525-127432079	K562	blood:	n/a	n/a
46	GABPA	chr2:127431538-127431977	K562	blood:	n/a	n/a
47	GABPA	chr2:127434382-127434695	K562	blood:	n/a	n/a
48	GATA1	chr2:127431558-127432026	PBDEFetal	blood:	n/a	chr2:127431797-127431807 chr2:127431805-127431812 chr2:127431794-127431810 chr2:127431799-127431816 chr2:127431796-127431808
49	GATA1	chr2:127431602-127432009	K562	blood:	n/a	chr2:127431797-127431807 chr2:127431805-127431812 chr2:127431794-127431810 chr2:127431799-127431816 chr2:127431796-127431808
50	GATA1	chr2:127433721-127434965	PBDE	blood:	n/a	chr2:127434638-127434646 chr2:127434481-127434491

No.	Distal block	Cell Line	Cell type
1	chr2:127430614..127434258-chr2:127435312..127438269,3	K562	blood:
2	chr2:127434549..127436811-chr2:127437779..127440229,2	K562	blood:
3	chr2:127433698..127435508-chr2:127441094..127442678,2	K562	blood:
4	chr2:127430249..127432742-chr2:127444629..127446893,2	K562	blood:
5	chr2:127426020..127428369-chr2:127431324..127434102,4	K562	blood:
6	chr2:127430614..127433355-chr2:127436468..127438269,2	K562	blood:
7	chr2:127426536..127429355-chr2:127441115..127443378,3	K562	blood:
8	chr2:127426020..127428369-chr2:127431324..127434102,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC114783.1.1-6	chr2:127435877-127436463	NONHSAT074133

Variant related genes	Relation type
ENSG00000235128	TF binding region
ENSG00000235128	chromatin interactions

Extended variants
information (count: 459 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:459 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6431170	chr2:127426754-127426755	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549882068	chr2:127426765-127426766	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532198300	chr2:127426773-127426774	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186474132	chr2:127426793-127426794	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116953552	chr2:127426794-127426795	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549158513	chr2:127426811-127426812	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191374585	chr2:127426816-127426817	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534915710	chr2:127426821-127426822	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28387123	chr2:127426822-127426823	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs570807943	chr2:127426832-127426833	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148567426	chr2:127426833-127426834	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552290973	chr2:127426837-127426838	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142967649	chr2:127426852-127426853	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528745925	chr2:127426864-127426865	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs28369976	chr2:127426883-127426884	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546945178	chr2:127426898-127426899	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28369977	chr2:127426918-127426919	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs28387124	chr2:127426979-127426980	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536655856	chr2:127427024-127427025	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs28387125	chr2:127427025-127427026	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs563382352	chr2:127427066-127427067	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528951154	chr2:127427072-127427073	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574614766	chr2:127427074-127427075	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549246405	chr2:127427104-127427105	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143683999	chr2:127427166-127427167	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183118469	chr2:127427171-127427172	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187704480	chr2:127427222-127427223	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551630096	chr2:127427242-127427243	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs151127756	chr2:127427247-127427248	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571421863	chr2:127427274-127427275	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28369978	chr2:127427289-127427290	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs28387126	chr2:127427297-127427298	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs569815901	chr2:127427319-127427320	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535548842	chr2:127427322-127427323	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558612493	chr2:127427338-127427339	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs143537150	chr2:127427339-127427340	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193280753	chr2:127427357-127427358	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572579719	chr2:127427368-127427369	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143767961	chr2:127427378-127427379	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs28387128	chr2:127427407-127427408	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10496657	chr2:127427513-127427514	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558444624	chr2:127427532-127427533	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185156032	chr2:127427596-127427597	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371994734	chr2:127427610-127427611	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554865296	chr2:127427626-127427627	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs28387129	chr2:127427673-127427674	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs28387130	chr2:127427674-127427675	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs560230311	chr2:127427681-127427682	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573822612	chr2:127427685-127427686	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542693223	chr2:127427688-127427689	Weak transcription Strong transcription Enhancers Genic 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	18451855	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127415200-127428000	Weak transcription	Gastric	stomach
2	chr2:127416200-127429000	Weak transcription	Fetal Intestine Small	intestine
3	chr2:127416200-127430000	Weak transcription	Fetal Intestine Large	intestine
4	chr2:127416200-127430200	Weak transcription	Aorta	Aorta
5	chr2:127417200-127433000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr2:127417200-127443600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:127417800-127426800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:127419000-127426800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:127420600-127430400	Weak transcription	Fetal Lung	lung
10	chr2:127421400-127430200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
12	chr2:127422600-127427000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:127422600-127427400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr2:127422600-127427600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:127422800-127427800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:127423200-127427800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:127423600-127427800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:127423600-127428400	Weak transcription	Pancreas	Pancrea
19	chr2:127423800-127427400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:127423800-127427600	Weak transcription	Lung	lung
21	chr2:127423800-127427800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:127423800-127429000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
23	chr2:127423800-127432600	Weak transcription	Thymus	Thymus
24	chr2:127423800-127433200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:127424000-127426800	Weak transcription	Psoas Muscle	Psoas
26	chr2:127424000-127427400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:127424000-127427800	Enhancers	Adipose Nuclei	Adipose
28	chr2:127424000-127432800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:127424200-127427400	Weak transcription	Placenta	Placenta
30	chr2:127424200-127431800	Weak transcription	Fetal Thymus	thymus
31	chr2:127424200-127451000	Weak transcription	NHLF	lung
32	chr2:127424400-127432000	Strong transcription	Primary B cells from cord blood	blood
33	chr2:127424600-127426800	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:127424600-127426800	Weak transcription	Right Atrium	heart
35	chr2:127424600-127426800	Weak transcription	Right Ventricle	heart
36	chr2:127424600-127427000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:127424600-127427400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:127424600-127427400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:127424600-127428000	Weak transcription	Esophagus	oesophagus
40	chr2:127424600-127428600	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:127424600-127429200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:127424600-127430000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:127424800-127427000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:127424800-127427000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:127424800-127427200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:127424800-127427400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:127424800-127427600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:127424800-127427600	Weak transcription	NHDF-Ad	bronchial
50	chr2:127425000-127427000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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