Variant report

Variant	esv2429496
Chromosome Location	chr2:127446841-127451443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:127437217..127440041-chr2:127447833..127449448,2	K562	blood:
2	chr2:127448304..127450684-chr2:127460998..127463238,2	K562	blood:
3	chr2:127430249..127432742-chr2:127444629..127446893,2	K562	blood:

Extended variants
information (count: 269 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55913529	chr2:127446842-127446843	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs503808	chr2:127446853-127446854	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs545820063	chr2:127446855-127446856	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562564235	chr2:127446873-127446874	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181667960	chr2:127446893-127446894	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185962954	chr2:127446904-127446905	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562161979	chr2:127446923-127446924	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527923900	chr2:127446926-127446927	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190087336	chr2:127446927-127446928	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs730664	chr2:127446937-127446938	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540118253	chr2:127447013-127447014	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181319111	chr2:127447035-127447036	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552628088	chr2:127447041-127447042	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184901527	chr2:127447046-127447047	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2165227	chr2:127447051-127447052	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs111967060	chr2:127447054-127447055	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565765736	chr2:127447055-127447056	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372251222	chr2:127447058-127447059	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs501866	chr2:127447092-127447093	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201357126	chr2:127447097-127447098	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28653215	chr2:127447129-127447130	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28609696	chr2:127447170-127447171	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs28502422	chr2:127447193-127447194	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576028274	chr2:127447237-127447238	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374089863	chr2:127447284-127447285	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149910017	chr2:127447307-127447308	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147923916	chr2:127447323-127447324	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527769216	chr2:127447355-127447356	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190873064	chr2:127447379-127447380	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28387200	chr2:127447393-127447394	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183929068	chr2:127447396-127447397	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372939007	chr2:127447399-127447400	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570316771	chr2:127447451-127447452	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528943444	chr2:127447460-127447461	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374428579	chr2:127447470-127447471	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs28369995	chr2:127447475-127447476	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145649458	chr2:127447478-127447479	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188722346	chr2:127447507-127447508	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557533566	chr2:127447528-127447529	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571118859	chr2:127447542-127447543	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192416768	chr2:127447553-127447554	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556880694	chr2:127447565-127447566	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183030209	chr2:127447590-127447591	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370959244	chr2:127447622-127447623	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs370494981	chr2:127447668-127447669	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558391968	chr2:127447705-127447706	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs28387202	chr2:127447718-127447719	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs575181939	chr2:127447721-127447722	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6709803	chr2:127447763-127447764	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541533005	chr2:127447767-127447768	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	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
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
Prostate cancer	22341455	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:249 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
2	chr2:127424200-127451000	Weak transcription	NHLF	lung
3	chr2:127424600-127447600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:127434000-127451000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:127434000-127451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:127434800-127453000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:127434800-127453200	Weak transcription	Placenta	Placenta
11	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
12	chr2:127435400-127452800	Weak transcription	Fetal Intestine Large	intestine
13	chr2:127439000-127447600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:127440400-127447400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:127440400-127451200	Weak transcription	Esophagus	oesophagus
17	chr2:127440600-127447400	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:127442000-127447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:127442000-127456800	Weak transcription	Osteobl	bone
20	chr2:127442400-127447600	Weak transcription	Aorta	Aorta
21	chr2:127443400-127452600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:127443600-127447600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
24	chr2:127443800-127447600	Weak transcription	Fetal Lung	lung
25	chr2:127443800-127447800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:127443800-127448800	Weak transcription	Thymus	Thymus
27	chr2:127444000-127447000	Enhancers	Right Ventricle	heart
28	chr2:127444000-127447400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:127444000-127447400	Weak transcription	Ovary	ovary
30	chr2:127444000-127447600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:127444000-127448800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:127444200-127447600	Weak transcription	Spleen	Spleen
35	chr2:127444200-127451400	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:127444400-127447000	Enhancers	Adipose Nuclei	Adipose
37	chr2:127444400-127447400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:127444400-127447600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:127444400-127447600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:127444400-127449800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:127444600-127447000	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr2:127444600-127447600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:127444600-127449600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:127444600-127451200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:127444800-127447400	Weak transcription	Lung	lung
46	chr2:127444800-127447800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:127445000-127448200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:127445200-127447400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:127445200-127456000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:127445400-127447400	Weak transcription	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links