Variant report

Variant	esv3451194
Chromosome Location	chr2:47995229-47997200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47615146..47616070-chr2:47994758..47995307,2	K562	blood:
2	chr2:47748123..47749357-chr2:47994786..47995698,3	MCF-7	breast:
3	chr2:47663794..47664989-chr2:47994770..47995591,3	MCF-7	breast:
4	chr2:47663402..47665141-chr2:47994504..47995700,15	MCF-7	breast:
5	chr2:47891704..47892615-chr2:47994816..47995721,2	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113720324	chr2:47995235-47995236	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs78861659	chr2:47995249-47995250	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs374640436	chr2:47995285-47995286	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs569664312	chr2:47995318-47995319	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs537390114	chr2:47995331-47995332	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs422972	chr2:47995374-47995375	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs374320702	chr2:47995408-47995409	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs552169377	chr2:47995409-47995410	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs570651104	chr2:47995414-47995415	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs142254954	chr2:47995418-47995419	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs552712379	chr2:47995433-47995434	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs561983334	chr2:47995445-47995446	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs199573138	chr2:47995470-47995471	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs144451866	chr2:47995482-47995483	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs543365531	chr2:47995487-47995488	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs72876811	chr2:47995492-47995493	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs368488079	chr2:47995534-47995535	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs575220659	chr2:47995577-47995578	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs546506105	chr2:47995595-47995596	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs372373419	chr2:47995652-47995653	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs191679283	chr2:47995682-47995683	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs550629179	chr2:47995699-47995700	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs569105109	chr2:47995724-47995725	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs532975553	chr2:47995739-47995740	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs147823987	chr2:47995777-47995778	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs181734224	chr2:47995842-47995843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61030588	chr2:47995854-47995855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368954654	chr2:47995856-47995857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529861285	chr2:47995870-47995871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13018878	chr2:47995878-47995879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111318253	chr2:47995882-47995883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548295699	chr2:47995884-47995885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55902440	chr2:47995886-47995887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13018887	chr2:47995891-47995892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13018892	chr2:47995898-47995899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13019398	chr2:47995919-47995920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55927449	chr2:47995932-47995933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56080932	chr2:47995935-47995936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564728619	chr2:47995943-47995944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs683675	chr2:47995947-47995948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56382728	chr2:47995951-47995952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs36183675	chr2:47995952-47995953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369688975	chr2:47995960-47995961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55846152	chr2:47995964-47995965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369986216	chr2:47995970-47995971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386645825	chr2:47995974-47995975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371880332	chr2:47995976-47995977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375824543	chr2:47995978-47995979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386645826	chr2:47995983-47995984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7603477	chr2:47995984-47995985	Weak transcription	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
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47983400-48009600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:47991000-48009600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:47993000-48009400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:47993200-47995400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:47994200-47995400	Enhancers	Placenta	Placenta
6	chr2:47994600-47995600	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:47994600-47995600	Enhancers	Liver	Liver
8	chr2:47994800-47995600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:47994800-47995600	Enhancers	GM12878-XiMat	blood
10	chr2:47994800-47995800	Enhancers	K562	blood
11	chr2:47995000-47995400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:47995000-47995400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:47995000-47995400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:47995000-47995400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:47995000-47995400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:47995000-47995400	Enhancers	Fetal Intestine Small	intestine
17	chr2:47995000-47995400	Enhancers	Fetal Thymus	thymus
18	chr2:47995000-47995400	Enhancers	Gastric	stomach
19	chr2:47995000-47995400	Active TSS	Rectal Smooth Muscle	rectum
20	chr2:47995000-47995400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:47995000-47995400	Flanking Bivalent TSS/Enh	Dnd41	blood
22	chr2:47995000-47995600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:47995000-47995600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:47995000-47995600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:47995000-47995600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:47995000-47995600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr2:47995000-47995600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:47995000-47995600	Enhancers	Brain Anterior Caudate	brain
29	chr2:47995000-47995600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr2:47995000-47995600	Enhancers	Fetal Muscle Leg	muscle
31	chr2:47995000-47995600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:47995000-47995800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr2:47995000-47995800	Enhancers	Ovary	ovary
34	chr2:47995200-47995400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:47995200-47995400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:47995200-47995400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:47995200-47995400	Enhancers	Brain Angular Gyrus	brain
38	chr2:47995200-47995400	Enhancers	Brain Hippocampus Middle	brain
39	chr2:47995200-47995400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:47995200-47995400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
41	chr2:47995200-47995400	Enhancers	Hela-S3	cervix
42	chr2:47995200-47995400	Bivalent/Poised TSS	HepG2	liver
43	chr2:47995200-47995600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:47995200-47998400	Weak transcription	A549	lung
45	chr2:47995200-47998600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:47995400-47995600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:47995400-47995600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
48	chr2:47995400-47995600	Bivalent Enhancer	Dnd41	blood
49	chr2:47995400-47995600	Flanking Active TSS	Hela-S3	cervix
50	chr2:47995400-47995800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links