Variant report

Variant	esv3386813
Chromosome Location	chr2:48712298-48714146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48695108..48697075-chr2:48713631..48716190,2	K562	blood:
2	chr2:48712939..48715886-chr2:48719769..48722227,2	MCF-7	breast:
3	chr2:48712026..48714820-chr2:48719875..48721592,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375445381	chr2:48712304-48712305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77742588	chr2:48712335-48712336	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149063543	chr2:48712338-48712339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576274384	chr2:48712364-48712365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11695461	chr2:48712367-48712368	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs200855085	chr2:48712447-48712448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565245623	chr2:48712452-48712453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577087107	chr2:48712514-48712515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541088941	chr2:48712547-48712548	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559724948	chr2:48712549-48712550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530033448	chr2:48712573-48712574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548793192	chr2:48712597-48712598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548710789	chr2:48712611-48712612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563727310	chr2:48712630-48712631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570176153	chr2:48712637-48712638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370103898	chr2:48712653-48712654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563023835	chr2:48712655-48712656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372150913	chr2:48712656-48712657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186232862	chr2:48712679-48712680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143096750	chr2:48712816-48712817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547363485	chr2:48712819-48712820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565707517	chr2:48712822-48712823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571250336	chr2:48712883-48712884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148240760	chr2:48712890-48712891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530502939	chr2:48712899-48712900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs62138865	chr2:48712962-48712963	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs147742041	chr2:48713002-48713003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367656832	chr2:48713015-48713016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371408923	chr2:48713017-48713018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62138866	chr2:48713027-48713028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111366091	chr2:48713036-48713037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141794183	chr2:48713048-48713049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373352595	chr2:48713055-48713056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs67954406	chr2:48713056-48713057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55768748	chr2:48713057-48713058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377504339	chr2:48713066-48713067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58436590	chr2:48713081-48713082	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60300909	chr2:48713088-48713089	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60382112	chr2:48713091-48713092	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60501743	chr2:48713096-48713097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs74370278	chr2:48713106-48713107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567932564	chr2:48713111-48713112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558697422	chr2:48713153-48713154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577000861	chr2:48713172-48713173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190159210	chr2:48713220-48713221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs79838914	chr2:48713233-48713234	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574780007	chr2:48713248-48713249	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546510378	chr2:48713259-48713260	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549343861	chr2:48713265-48713266	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182641952	chr2:48713266-48713267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:178 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48673200-48724000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:48682600-48716200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:48689200-48735600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:48690000-48735600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:48694000-48729400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
7	chr2:48695200-48723800	Weak transcription	Gastric	stomach
8	chr2:48695200-48725800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:48695200-48728000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:48695400-48728000	Weak transcription	Hela-S3	cervix
11	chr2:48695600-48713400	Weak transcription	Colonic Mucosa	Colon
12	chr2:48695600-48735200	Weak transcription	K562	blood
13	chr2:48696200-48721000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:48696400-48716400	Weak transcription	Right Ventricle	heart
15	chr2:48696400-48721600	Weak transcription	Left Ventricle	heart
16	chr2:48696400-48723800	Weak transcription	Aorta	Aorta
17	chr2:48698600-48723200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:48698800-48729200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:48698800-48735400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:48700200-48735400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr2:48700600-48718400	Strong transcription	Primary T cells from cord blood	blood
22	chr2:48700600-48735600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:48701600-48714400	Strong transcription	GM12878-XiMat	blood
24	chr2:48701800-48715000	Weak transcription	NHDF-Ad	bronchial
25	chr2:48702000-48716400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:48703200-48723400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:48703200-48729800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:48704000-48712400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:48704000-48718600	Strong transcription	Fetal Thymus	thymus
30	chr2:48704000-48735800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:48704200-48716800	Strong transcription	Placenta	Placenta
32	chr2:48704400-48718600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:48704400-48730000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr2:48704600-48717000	Strong transcription	Primary B cells from cord blood	blood
35	chr2:48704600-48735400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:48704600-48735600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:48705400-48713600	Weak transcription	HSMM	muscle
38	chr2:48705400-48716200	Weak transcription	Esophagus	oesophagus
39	chr2:48705800-48713200	Weak transcription	HSMMtube	muscle
40	chr2:48705800-48715000	Weak transcription	A549	lung
41	chr2:48706600-48716600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:48706600-48728000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:48707000-48715800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:48707400-48713800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:48707400-48742000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:48707600-48725800	Weak transcription	Small Intestine	intestine
47	chr2:48707600-48725800	Weak transcription	HMEC	breast
48	chr2:48707800-48713400	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr2:48707800-48713800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:48707800-48725600	Weak transcription	H1 Cell Line	embryonic stem cell

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