Variant report

Variant	rs41285983
Chromosome Location	chr2:74362034-74362035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74357697..74362841-chr2:74424131..74428670,5	K562	blood:
2	chr2:74347518..74349564-chr2:74361288..74362886,2	MCF-7	breast:
3	chr2:74361954..74364751-chr2:74477805..74479595,2	MCF-7	breast:
4	chr2:74360981..74362934-chr2:74373468..74376245,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257800	Chromatin interaction
ENSG00000188687	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000225439	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17009632	1.00[EUR][1000 genomes]
rs41285981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4853010	0.88[AFR][1000 genomes]
rs4853011	0.85[AFR][1000 genomes]
rs57498180	1.00[EUR][1000 genomes]
rs59253442	1.00[EUR][1000 genomes]
rs61120808	1.00[EUR][1000 genomes]
rs72909178	0.94[EUR][1000 genomes]
rs72909198	1.00[EUR][1000 genomes]
rs72915079	1.00[EUR][1000 genomes]
rs72915085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs828894	1.00[EUR][1000 genomes]
rs828895	1.00[EUR][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	nsv874286	chr2:74323500-74436721	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv3427010	chr2:74351730-74813541	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
3	nsv525117	chr2:74358901-74374641	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74348200-74367600	Weak transcription	Brain Anterior Caudate	brain
2	chr2:74354400-74373800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:74355200-74373800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:74357600-74373800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:74357800-74367600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:74357800-74373600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:74358200-74364800	Weak transcription	Esophagus	oesophagus
8	chr2:74358200-74373800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:74358600-74367800	Weak transcription	Osteobl	bone
10	chr2:74358600-74368800	Weak transcription	NHDF-Ad	bronchial
11	chr2:74358800-74373800	Weak transcription	HUVEC	blood vessel
12	chr2:74359200-74373600	Weak transcription	Fetal Heart	heart
13	chr2:74359400-74362400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:74359400-74362600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:74359400-74367600	Weak transcription	HSMM	muscle
16	chr2:74359400-74373600	Weak transcription	Primary B cells from cord blood	blood
17	chr2:74359600-74373400	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:74359600-74373800	Weak transcription	Small Intestine	intestine
19	chr2:74359800-74373600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:74359800-74373600	Weak transcription	NH-A	brain
21	chr2:74360000-74369800	Weak transcription	Colonic Mucosa	Colon
22	chr2:74360200-74373600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:74360400-74362200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:74360400-74362200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:74360400-74362200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:74360400-74362200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:74360400-74362200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:74360400-74362200	Strong transcription	Brain Substantia Nigra	brain
29	chr2:74360400-74362200	Strong transcription	Fetal Lung	lung
30	chr2:74360400-74362200	Strong transcription	A549	lung
31	chr2:74360400-74362400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:74360400-74362400	Strong transcription	Brain Hippocampus Middle	brain
33	chr2:74360400-74362600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:74360400-74362600	Strong transcription	Primary T cells from cord blood	blood
35	chr2:74360400-74362600	Strong transcription	Brain Germinal Matrix	brain
36	chr2:74360400-74362800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:74360400-74362800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:74360400-74362800	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr2:74360400-74362800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr2:74360400-74362800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr2:74360400-74363000	Strong transcription	Fetal Brain Female	brain
42	chr2:74360400-74363400	Strong transcription	Fetal Stomach	stomach
43	chr2:74360400-74363400	Strong transcription	Dnd41	blood
44	chr2:74360400-74366600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:74360600-74362200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr2:74360600-74362200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:74360600-74362200	Strong transcription	Gastric	stomach
48	chr2:74360600-74362200	Strong transcription	Left Ventricle	heart
49	chr2:74360600-74362200	ZNF genes & repeats	Lung	lung
50	chr2:74360600-74362400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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