Variant report

Variant	esv1932167
Chromosome Location	chr2:48675527-48675952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48673221..48675776-chr2:48684217..48685788,2	MCF-7	breast:
2	chr2:48335435..48337113-chr2:48675018..48677889,2	K562	blood:
3	chr2:48668357..48671385-chr2:48673634..48677025,4	K562	blood:
4	chr2:48671387..48674060-chr2:48675787..48677578,2	K562	blood:
5	chr2:48010725..48012661-chr2:48674765..48677186,2	K562	blood:
6	chr2:48666517..48672497-chr2:48674609..48679967,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116062	chromatin interactions
ENSG00000272663	chromatin interactions
ENSG00000162869	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538346504	chr2:48675534-48675535	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs182615379	chr2:48675549-48675550	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs567851660	chr2:48675622-48675623	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs539654327	chr2:48675641-48675642	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs557663959	chr2:48675645-48675646	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs573131697	chr2:48675654-48675655	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs540095468	chr2:48675661-48675662	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs554946220	chr2:48675693-48675694	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs559868621	chr2:48675710-48675711	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs142178600	chr2:48675722-48675723	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs573270593	chr2:48675731-48675732	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs142934289	chr2:48675735-48675736	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs543915016	chr2:48675748-48675749	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs72822203	chr2:48675750-48675751	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs144052719	chr2:48675755-48675756	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs562635103	chr2:48675768-48675769	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs532862806	chr2:48675790-48675791	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs78416381	chr2:48675797-48675798	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs145819317	chr2:48675837-48675838	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs77501231	chr2:48675843-48675844	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs188082525	chr2:48675850-48675851	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs566406231	chr2:48675878-48675879	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs549654048	chr2:48675880-48675881	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs34388017	chr2:48675903-48675904	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48668600-48682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:48668800-48675800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:48668800-48675800	Weak transcription	Psoas Muscle	Psoas
4	chr2:48668800-48678800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:48668800-48679600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:48668800-48682400	Weak transcription	Lung	lung
7	chr2:48669000-48678400	Weak transcription	Colonic Mucosa	Colon
8	chr2:48669000-48678800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:48669000-48679000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:48669000-48680000	Weak transcription	Fetal Stomach	stomach
11	chr2:48669000-48681800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:48669000-48683400	Weak transcription	Right Ventricle	heart
13	chr2:48669200-48675600	Weak transcription	Adipose Nuclei	Adipose
14	chr2:48669200-48678400	Weak transcription	HUVEC	blood vessel
15	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:48669400-48675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:48669400-48685000	Weak transcription	Fetal Brain Female	brain
18	chr2:48669400-48693800	Weak transcription	Hela-S3	cervix
19	chr2:48669600-48675800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:48669600-48675800	Weak transcription	Stomach Mucosa	stomach
21	chr2:48669600-48694200	Weak transcription	Fetal Brain Male	brain
22	chr2:48670000-48679000	Weak transcription	Brain Germinal Matrix	brain
23	chr2:48670400-48678200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:48670400-48678800	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:48670400-48678800	Weak transcription	Ovary	ovary
26	chr2:48670600-48675600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr2:48670800-48681800	Weak transcription	Gastric	stomach
28	chr2:48670800-48681800	Weak transcription	Spleen	Spleen
29	chr2:48671400-48678200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:48671600-48681800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:48671800-48675800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr2:48671800-48677200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:48671800-48678600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr2:48671800-48692400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr2:48672200-48676200	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr2:48672800-48677800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:48673000-48675600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:48673000-48675600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:48673000-48676400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:48673000-48676400	Weak transcription	Fetal Intestine Small	intestine
41	chr2:48673000-48678600	Weak transcription	Placenta	Placenta
42	chr2:48673000-48679000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:48673000-48681600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:48673000-48681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:48673000-48682000	Weak transcription	Esophagus	oesophagus
46	chr2:48673000-48686800	Weak transcription	Pancreas	Pancrea
47	chr2:48673000-48697400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:48673200-48675600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:48673200-48676200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:48673200-48679200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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