Variant report

Variant	rs7623582
Chromosome Location	chr3:49590415-49590416
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:49588369..49590572-chr3:49704819..49707525,2	K562	blood:
2	chr3:49588932..49590951-chr3:49710802..49712975,2	K562	blood:
3	chr3:49582614..49585275-chr3:49588937..49591341,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NICN1-1	chr3:49590374-49591536	NONHSAT089709

Variant related genes	Relation type
ENSG00000164062	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34379671	1.00[AMR][1000 genomes]
rs35481257	1.00[AMR][1000 genomes]
rs6446261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6772424	1.00[AMR][1000 genomes]
rs6777731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6800591	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6806073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6808633	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7626820	1.00[AMR][1000 genomes]
rs7633189	1.00[AMR][1000 genomes]
rs7634945	1.00[AMR][1000 genomes]
rs7636222	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7641976	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3369484	chr3:49586448-49590446	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49585200-49590600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:49585400-49590600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr3:49586000-49590800	Weak transcription	Right Ventricle	heart
4	chr3:49587400-49590600	Enhancers	HepG2	liver
5	chr3:49587600-49590600	Weak transcription	Right Atrium	heart
6	chr3:49587800-49590600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:49588000-49590600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:49588200-49590800	Weak transcription	HUVEC	blood vessel
9	chr3:49588200-49591000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr3:49588400-49590600	Weak transcription	Adipose Nuclei	Adipose
11	chr3:49588600-49590600	Weak transcription	Brain Substantia Nigra	brain
12	chr3:49588800-49591000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:49589000-49591200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:49589200-49590600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr3:49589400-49590800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:49589400-49590800	Weak transcription	Fetal Intestine Large	intestine
17	chr3:49589400-49591200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr3:49589600-49590600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:49589600-49591200	Enhancers	Primary hematopoietic stem cells	blood
20	chr3:49589800-49590600	Enhancers	Dnd41	blood
21	chr3:49589800-49590800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:49589800-49591000	Enhancers	Lung	lung
23	chr3:49590200-49590800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:49590200-49590800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr3:49590400-49590600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:49590400-49590600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr3:49590400-49590600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr3:49590400-49590600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:49590400-49590600	Enhancers	Brain Angular Gyrus	brain
30	chr3:49590400-49590600	Enhancers	Brain Anterior Caudate	brain
31	chr3:49590400-49590800	Enhancers	H9 Cell Line	embryonic stem cell
32	chr3:49590400-49590800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:49590400-49590800	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr3:49590400-49590800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr3:49590400-49590800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:49590400-49590800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr3:49590400-49590800	Enhancers	Stomach Smooth Muscle	stomach
38	chr3:49590400-49591000	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr3:49590400-49591000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr3:49590400-49591000	Enhancers	Fetal Kidney	kidney
41	chr3:49590400-49591000	Enhancers	Fetal Muscle Leg	muscle
42	chr3:49590400-49591000	Enhancers	Pancreas	Pancrea
43	chr3:49590400-49591000	Enhancers	K562	blood
44	chr3:49590400-49591200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:49590400-49591400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:49590400-49591400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood

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