Variant report

Variant	nsv829197
Chromosome Location	chr2:48812496-48824109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48698168..48698704-chr2:48816044..48816581,2	MCF-7	breast:
2	chr2:48793739..48794249-chr2:48815968..48816646,2	MCF-7	breast:
3	chr2:48697799..48698704-chr2:48819681..48820191,2	MCF-7	breast:
4	chr2:48806857..48808745-chr2:48811544..48813174,2	MCF-7	breast:
5	chr2:48772382..48773067-chr2:48815926..48816979,3	K562	blood:
6	chr2:48793384..48794350-chr2:48816086..48816820,5	MCF-7	breast:
7	chr2:48803645..48806256-chr2:48816244..48817751,2	K562	blood:
8	chr2:48793447..48794436-chr2:48816095..48816687,2	K562	blood:
9	chr2:48822120..48826399-chr2:48830586..48834373,3	K562	blood:
10	chr2:48338188..48338961-chr2:48816027..48816580,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243244	chromatin interactions
ENSG00000162869	chromatin interactions
ENSG00000068781	chromatin interactions

Extended variants
information (count: 506 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147317988	chr2:48812504-48812505	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs55858189	chr2:48812554-48812555	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs11683611	chr2:48812560-48812561	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs141036654	chr2:48812600-48812601	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs181916486	chr2:48812610-48812611	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs530373755	chr2:48812615-48812616	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs548302789	chr2:48812634-48812635	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561234734	chr2:48812656-48812657	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185570224	chr2:48812670-48812671	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532842447	chr2:48812677-48812678	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs149439901	chr2:48812680-48812681	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs148622451	chr2:48812685-48812686	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142093767	chr2:48812690-48812691	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540203193	chr2:48812767-48812768	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs551427565	chr2:48812819-48812820	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs536534860	chr2:48812827-48812828	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs3792237	chr2:48812828-48812829	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs575611067	chr2:48812845-48812846	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs75693406	chr2:48812846-48812847	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs367944944	chr2:48812868-48812869	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564653718	chr2:48812903-48812904	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs189300055	chr2:48812939-48812940	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs553392017	chr2:48812986-48812987	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs541229923	chr2:48813018-48813019	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs551355348	chr2:48813050-48813051	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559859014	chr2:48813081-48813082	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs151170594	chr2:48813110-48813111	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs548860867	chr2:48813111-48813112	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs3792238	chr2:48813118-48813119	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs530915548	chr2:48813172-48813173	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs180932153	chr2:48813184-48813185	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570981601	chr2:48813204-48813205	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139277420	chr2:48813230-48813231	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547315088	chr2:48813234-48813235	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565861475	chr2:48813256-48813257	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536180214	chr2:48813299-48813300	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554832745	chr2:48813303-48813304	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75756940	chr2:48813308-48813309	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149436381	chr2:48813317-48813318	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575897066	chr2:48813346-48813347	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536669055	chr2:48813350-48813351	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558082827	chr2:48813381-48813382	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576540635	chr2:48813409-48813410	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144106479	chr2:48813412-48813413	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531885783	chr2:48813442-48813443	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574958016	chr2:48813450-48813451	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10495954	chr2:48813454-48813455	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs563988713	chr2:48813484-48813485	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531205680	chr2:48813488-48813489	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546227143	chr2:48813513-48813514	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
T-cell lymphomas	22341440	CNVD
Melanoma	20877625	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:48794400-48827200	Weak transcription	NHDF-Ad	bronchial
3	chr2:48795400-48814200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:48795600-48826000	Weak transcription	Fetal Intestine Small	intestine
5	chr2:48798800-48815600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:48799000-48825800	Weak transcription	HSMMtube	muscle
7	chr2:48800400-48812600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:48800400-48813400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:48800400-48814000	Weak transcription	Lung	lung
10	chr2:48800800-48812800	Weak transcription	Brain Germinal Matrix	brain
11	chr2:48804600-48824600	Weak transcription	Fetal Intestine Large	intestine
12	chr2:48804800-48816200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:48807600-48813600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:48807800-48812800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr2:48807800-48814200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:48807800-48815200	Strong transcription	Fetal Stomach	stomach
17	chr2:48807800-48815400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:48808000-48813000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:48808400-48827600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:48808600-48814000	Weak transcription	Psoas Muscle	Psoas
21	chr2:48808600-48821200	Weak transcription	Fetal Kidney	kidney
22	chr2:48808600-48834800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:48808800-48821000	Weak transcription	Adipose Nuclei	Adipose
24	chr2:48809000-48821000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:48809000-48824400	Weak transcription	Left Ventricle	heart
26	chr2:48809600-48813400	Weak transcription	Fetal Lung	lung
27	chr2:48809600-48814000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:48809600-48814600	Weak transcription	Ovary	ovary
29	chr2:48809600-48821000	Weak transcription	Aorta	Aorta
30	chr2:48809600-48827200	Weak transcription	Right Ventricle	heart
31	chr2:48809800-48828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:48810600-48812800	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:48810800-48816400	Enhancers	Placenta	Placenta
34	chr2:48811600-48816400	Enhancers	Placenta Amnion	Placenta Amnion
35	chr2:48811800-48813400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:48811800-48813800	Genic enhancers	Fetal Muscle Leg	muscle
37	chr2:48811800-48814200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:48811800-48815800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:48812000-48813400	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:48812000-48813600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr2:48812000-48813800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr2:48812000-48814200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:48812000-48814200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:48812000-48814200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:48812200-48812600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:48812200-48813000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:48812200-48813800	Enhancers	Brain Substantia Nigra	brain
48	chr2:48812200-48814000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:48812200-48828000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr2:48812400-48813400	Weak transcription	H1 Cell Line	embryonic stem cell

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