Variant report

Variant	rs34984955
Chromosome Location	chrX:80522739-80522740
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10782556	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11161600	0.81[ASN][1000 genomes]
rs11161602	0.84[ASN][1000 genomes]
rs11161605	0.82[ASN][1000 genomes]
rs12021750	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12024645	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12024786	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031600	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12033058	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12033059	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12045363	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12049212	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12407107	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12564772	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12724860	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12727156	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12728962	0.81[ASN][1000 genomes]
rs12756349	0.81[ASN][1000 genomes]
rs12757866	0.82[ASN][1000 genomes]
rs17097634	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2131558	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34486572	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35290302	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3737574	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5745314	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5745334	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5745353	0.82[ASN][1000 genomes]
rs5745426	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5745429	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58552356	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6680389	0.82[ASN][1000 genomes]
rs71656856	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7525919	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754822	chrX:80365094-80852865	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:80494200-80523000	Weak transcription	Gastric	stomach
2	chrX:80497400-80534400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chrX:80497800-80525800	Weak transcription	Primary B cells from peripheral blood	blood
4	chrX:80501800-80526000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chrX:80510200-80547400	Weak transcription	Primary B cells from cord blood	blood
6	chrX:80511600-80547000	Weak transcription	Brain Angular Gyrus	brain
7	chrX:80512200-80536800	Weak transcription	Brain Hippocampus Middle	brain
8	chrX:80512600-80539000	Weak transcription	Primary T cells from cord blood	blood
9	chrX:80514400-80525800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chrX:80514600-80532600	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chrX:80514800-80532400	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chrX:80515200-80526000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chrX:80515400-80549400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chrX:80515800-80532400	Weak transcription	HSMM	muscle
15	chrX:80516800-80554200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chrX:80517600-80535000	Weak transcription	Colon Smooth Muscle	Colon
17	chrX:80517800-80535200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chrX:80518000-80532600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chrX:80518600-80537200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chrX:80518800-80526000	Weak transcription	Fetal Intestine Small	intestine
21	chrX:80518800-80534000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chrX:80518800-80534800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chrX:80518800-80535600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chrX:80518800-80547400	Weak transcription	Pancreas	Pancrea
25	chrX:80519000-80531800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chrX:80519000-80535000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chrX:80519000-80537600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chrX:80519200-80533400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chrX:80519400-80532800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chrX:80519400-80534000	Weak transcription	Fetal Thymus	thymus
31	chrX:80519600-80525600	Weak transcription	Rectal Smooth Muscle	rectum
32	chrX:80519600-80533000	Weak transcription	Fetal Intestine Large	intestine
33	chrX:80519600-80537800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chrX:80520200-80526800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chrX:80520400-80534600	Weak transcription	Brain Germinal Matrix	brain
36	chrX:80520400-80535400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chrX:80521200-80526000	Weak transcription	Fetal Stomach	stomach
38	chrX:80522400-80525800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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