Variant report

Variant	esv275164
Chromosome Location	chr2:48831901-48833097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48831692..48834380-chr2:48844421..48846212,2	K562	blood:
2	chr2:48822120..48826399-chr2:48830586..48834373,3	K562	blood:
3	chr2:48828639..48830451-chr2:48830570..48832149,2	K562	blood:

Variant related genes	Relation type
ENSG00000242441	chromatin interactions

Extended variants
information (count: 53 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6739536	chr2:48831901-48831902	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs527704539	chr2:48831920-48831921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145902293	chr2:48831923-48831924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs6752945	chr2:48831931-48831932	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs6739556	chr2:48831960-48831961	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11691953	chr2:48831985-48831986	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs569061981	chr2:48831994-48831995	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373946544	chr2:48831997-48831998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138783433	chr2:48832030-48832031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182829526	chr2:48832041-48832042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566616536	chr2:48832074-48832075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533819497	chr2:48832126-48832127	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555044986	chr2:48832147-48832148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140297067	chr2:48832196-48832197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150369591	chr2:48832209-48832210	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555801344	chr2:48832215-48832216	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs546383899	chr2:48832311-48832312	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187350506	chr2:48832316-48832317	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545166997	chr2:48832337-48832338	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560426879	chr2:48832338-48832339	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572632695	chr2:48832403-48832404	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11693317	chr2:48832414-48832415	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs7604334	chr2:48832433-48832434	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs2177486	chr2:48832462-48832463	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550303299	chr2:48832485-48832486	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2882085	chr2:48832504-48832505	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs7578339	chr2:48832506-48832507	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs7578343	chr2:48832513-48832514	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566789863	chr2:48832514-48832515	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115561164	chr2:48832519-48832520	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549006051	chr2:48832558-48832559	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567162263	chr2:48832586-48832587	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192180636	chr2:48832594-48832595	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12619280	chr2:48832600-48832601	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11419352	chr2:48832670-48832671	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs185421152	chr2:48832691-48832692	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553581676	chr2:48832743-48832744	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114392977	chr2:48832797-48832798	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs7592491	chr2:48832809-48832810	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535966366	chr2:48832817-48832818	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190722556	chr2:48832830-48832831	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555019052	chr2:48832841-48832842	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576620815	chr2:48832887-48832888	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557384306	chr2:48832945-48832946	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs542941176	chr2:48832948-48832949	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs193126955	chr2:48832986-48832987	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs575551350	chr2:48832990-48832991	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs546177626	chr2:48833011-48833012	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs62137476	chr2:48833018-48833019	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs576474446	chr2:48833045-48833046	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48808600-48834800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:48814000-48835600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:48814200-48834800	Weak transcription	Lung	lung
4	chr2:48815800-48840200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:48816200-48834800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:48816400-48833800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:48816400-48836200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:48821600-48832400	Weak transcription	Fetal Kidney	kidney
9	chr2:48823200-48833800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:48823200-48841200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:48824800-48832800	Weak transcription	Fetal Stomach	stomach
12	chr2:48825200-48832400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:48825200-48834200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:48825200-48834200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:48825200-48834200	Weak transcription	Left Ventricle	heart
16	chr2:48825200-48834400	Weak transcription	Fetal Lung	lung
17	chr2:48825400-48834400	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:48825400-48834400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:48825600-48832400	Weak transcription	Adipose Nuclei	Adipose
20	chr2:48828600-48832200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:48828600-48836400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:48829000-48833800	Weak transcription	Brain Hippocampus Middle	brain
23	chr2:48829000-48834400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:48829000-48834400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:48829000-48834400	Weak transcription	NHDF-Ad	bronchial
26	chr2:48830800-48834600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:48831000-48832200	Weak transcription	K562	blood
28	chr2:48831000-48835200	Weak transcription	Aorta	Aorta
29	chr2:48831000-48859600	Weak transcription	Ovary	ovary
30	chr2:48832200-48832400	Genic enhancers	K562	blood
31	chr2:48832200-48833200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:48832400-48832800	Transcr. at gene 5' and 3'	K562	blood
33	chr2:48832400-48833000	Strong transcription	Adipose Nuclei	Adipose
34	chr2:48832400-48833200	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:48832400-48833200	Strong transcription	Fetal Kidney	kidney
36	chr2:48832600-48833000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:48832600-48833800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:48832800-48833000	Flanking Active TSS	K562	blood
39	chr2:48833000-48834000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:48833000-48834600	Enhancers	K562	blood
41	chr2:48833000-48838400	Weak transcription	Adipose Nuclei	Adipose

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