Variant report

Variant	rs1562293
Chromosome Location	chr2:98412282-98412283
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98403775..98408047-chr2:98409858..98412434,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10432617	0.96[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10432627	0.96[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10432628	0.96[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10460480	0.84[ASN][1000 genomes]
rs11687510	1.00[CHB][hapmap]
rs12053205	0.96[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs17033906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2278699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2289918	0.90[ASN][1000 genomes]
rs2289919	0.88[ASN][1000 genomes]
rs35321446	0.86[ASN][1000 genomes]
rs56293187	0.90[ASN][1000 genomes]
rs56948188	0.86[ASN][1000 genomes]
rs57831860	0.90[ASN][1000 genomes]
rs58019724	0.99[ASN][1000 genomes]
rs58511420	0.90[ASN][1000 genomes]
rs59562515	0.88[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs61228852	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs62157588	0.85[ASN][1000 genomes]
rs6543040	0.89[CHB][hapmap]
rs6711959	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs72951160	0.90[ASN][1000 genomes]
rs73963109	0.90[ASN][1000 genomes]
rs746003	0.90[ASN][1000 genomes]
rs746004	0.90[ASN][1000 genomes]
rs7565744	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:98378600-98421400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:98382800-98419800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr2:98383200-98420200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:98387800-98438200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:98392400-98415600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:98392400-98418600	Weak transcription	Fetal Kidney	kidney
8	chr2:98394200-98415000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:98398800-98421000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr2:98399600-98429600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:98401400-98422600	Strong transcription	Primary B cells from cord blood	blood
12	chr2:98401600-98422400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:98402000-98416600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:98402000-98423200	Strong transcription	Primary B cells from peripheral blood	blood
15	chr2:98402000-98440400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:98402200-98422200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr2:98402200-98422600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:98402400-98428600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:98402600-98422200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:98402600-98422600	Strong transcription	Liver	Liver
21	chr2:98403200-98422400	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr2:98403600-98422600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:98404400-98413200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:98405800-98459600	Weak transcription	Stomach Mucosa	stomach
25	chr2:98406000-98414800	Weak transcription	Fetal Heart	heart
26	chr2:98406200-98427200	Weak transcription	K562	blood
27	chr2:98406400-98469200	Weak transcription	A549	lung
28	chr2:98406800-98416400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:98407400-98413800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:98407400-98422000	Strong transcription	Adipose Nuclei	Adipose
31	chr2:98407400-98422200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:98407800-98422000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:98408200-98415000	Weak transcription	NHEK	skin
34	chr2:98409000-98425000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:98409200-98423600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:98409400-98413000	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:98409400-98413200	Weak transcription	GM12878-XiMat	blood
38	chr2:98409400-98414600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:98409400-98415000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:98409400-98417000	Weak transcription	Lung	lung
41	chr2:98409400-98418600	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:98409400-98423400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:98409400-98423600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:98409400-98423600	Weak transcription	Psoas Muscle	Psoas
45	chr2:98409400-98484200	Weak transcription	HUVEC	blood vessel
46	chr2:98409600-98413600	Weak transcription	Fetal Lung	lung
47	chr2:98409600-98415000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:98409600-98415600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:98409600-98418600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:98409600-98419800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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