Variant report

Variant	rs10942629
Chromosome Location	chr5:90628243-90628244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:90620993..90625952-chr5:90626297..90629321,4	K562	blood:
2	chr5:90620286..90631493-chr5:90673961..90680952,22	K562	blood:
3	chr5:90623090..90625952-chr5:90626730..90629321,3	K562	blood:
4	chr5:90626215..90629880-chr5:90669812..90672845,3	K562	blood:
5	chr5:90626594..90630452-chr5:90662107..90665248,4	K562	blood:
6	chr5:90622849..90631493-chr5:90673648..90681743,16	K562	blood:
7	chr5:90626936..90629876-chr5:90648777..90650616,2	K562	blood:
8	chr5:90626959..90631910-chr5:90674929..90677621,4	MCF-7	breast:
9	chr5:90627877..90630368-chr5:90668279..90670836,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction
ENSG00000240388	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10037293	0.82[MEX][hapmap];0.80[AMR][1000 genomes]
rs10942630	0.82[MEX][hapmap]
rs11950828	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2063461	0.93[EUR][1000 genomes]
rs4916713	0.82[EUR][1000 genomes]
rs4916860	0.95[CEU][hapmap];1.00[GIH][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs57318317	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60716916	0.93[EUR][1000 genomes]
rs62373948	0.92[EUR][1000 genomes]
rs62373959	0.82[EUR][1000 genomes]
rs6873839	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6886011	0.93[EUR][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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90619000-90629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:90621800-90634600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:90625200-90634800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr5:90625600-90635000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:90627000-90628600	Enhancers	Colon Smooth Muscle	Colon
6	chr5:90627400-90628400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:90627400-90628800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:90627400-90628800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:90627400-90628800	Enhancers	HepG2	liver
10	chr5:90627400-90629000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:90627400-90629000	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:90627400-90629000	Enhancers	A549	lung
13	chr5:90627400-90629000	Enhancers	Hela-S3	cervix
14	chr5:90627600-90628400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:90627600-90628400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:90627600-90628400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:90627600-90628400	Enhancers	Fetal Thymus	thymus
18	chr5:90627600-90628600	Enhancers	NH-A	brain
19	chr5:90627600-90629200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:90627800-90628400	Enhancers	Gastric	stomach
21	chr5:90627800-90628400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr5:90627800-90628400	Enhancers	Osteobl	bone
23	chr5:90627800-90628600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr5:90627800-90628600	Enhancers	HMEC	breast
25	chr5:90627800-90628800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:90627800-90628800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:90628000-90628400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr5:90628000-90628400	Enhancers	GM12878-XiMat	blood
29	chr5:90628000-90628400	Enhancers	HUVEC	blood vessel
30	chr5:90628000-90628400	Flanking Active TSS	K562	blood
31	chr5:90628000-90628600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:90628000-90628600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:90628000-90628600	Enhancers	NHDF-Ad	bronchial
34	chr5:90628000-90628600	Enhancers	NHEK	skin
35	chr5:90628000-90634800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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