Variant report

Variant	rs469913
Chromosome Location	chr5:127666082-127666083
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	chr5:127664970..127667943-chr5:127669467..127671261,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12656510	1.00[EUR][1000 genomes]
rs12658318	0.80[EUR][1000 genomes]
rs32207	0.83[EUR][1000 genomes]
rs32208	0.81[EUR][1000 genomes]
rs32209	0.83[EUR][1000 genomes]
rs32210	0.83[EUR][1000 genomes]
rs32211	0.83[EUR][1000 genomes]
rs32212	0.83[EUR][1000 genomes]
rs32213	0.83[EUR][1000 genomes]
rs39936	0.83[EUR][1000 genomes]
rs39937	0.83[EUR][1000 genomes]
rs39939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41080	0.83[EUR][1000 genomes]
rs42280	0.83[EUR][1000 genomes]
rs42688	0.83[EUR][1000 genomes]
rs72663358	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72663359	0.97[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	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127589000-127670200	Weak transcription	NHDF-Ad	bronchial
2	chr5:127638200-127685000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:127655600-127667000	Weak transcription	NHEK	skin
4	chr5:127657400-127685000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:127658000-127683600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:127659200-127693600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:127659200-127693800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:127660600-127668000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:127660600-127668000	Weak transcription	Hela-S3	cervix
10	chr5:127660600-127683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:127660600-127687000	Weak transcription	Fetal Brain Female	brain
12	chr5:127661000-127667400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr5:127661000-127675800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:127661200-127674800	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr5:127661200-127675600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:127661200-127683800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:127661200-127693000	Weak transcription	NHLF	lung
18	chr5:127661200-127693600	Strong transcription	Placenta	Placenta
19	chr5:127661400-127667200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:127661600-127666400	Strong transcription	HMEC	breast
21	chr5:127661800-127675000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr5:127661800-127683600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:127662000-127666400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:127662000-127667400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:127662000-127674400	Weak transcription	Fetal Intestine Small	intestine
26	chr5:127662000-127681400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr5:127662400-127668600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:127662400-127674800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:127662400-127675800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:127662800-127666200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:127663000-127666200	Weak transcription	Fetal Lung	lung
32	chr5:127663200-127666200	Weak transcription	Fetal Kidney	kidney
33	chr5:127663200-127666200	Weak transcription	Fetal Muscle Leg	muscle
34	chr5:127663200-127670000	Weak transcription	HUVEC	blood vessel
35	chr5:127663200-127675400	Weak transcription	Fetal Intestine Large	intestine
36	chr5:127663600-127667800	Strong transcription	A549	lung
37	chr5:127663600-127668600	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr5:127664200-127673200	Weak transcription	NH-A	brain
39	chr5:127664600-127666200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr5:127664600-127666200	Weak transcription	Fetal Stomach	stomach
41	chr5:127664600-127666400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:127664600-127667000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:127664600-127669600	Weak transcription	Left Ventricle	heart
44	chr5:127664600-127670200	Weak transcription	Ovary	ovary
45	chr5:127664600-127671400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr5:127664600-127673200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:127664600-127678800	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:127664600-127682000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr5:127665000-127666800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:127665200-127669800	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links