Variant report

Variant	rs71520893
Chromosome Location	chr8:105532302-105532303
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	chr8:105529593..105532262-chr8:105532296..105533876,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10505062	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808392	1.00[ASN][1000 genomes]
rs11775166	0.81[EUR][1000 genomes]
rs11775331	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11776230	0.84[EUR][1000 genomes]
rs11777528	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11779233	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11781863	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11782169	0.83[EUR][1000 genomes]
rs11782457	0.90[AMR][1000 genomes]
rs11782889	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783063	0.86[EUR][1000 genomes]
rs11783104	0.84[EUR][1000 genomes]
rs11783651	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784193	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785071	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11786825	0.86[EUR][1000 genomes]
rs11787202	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11989936	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11996303	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675273	0.86[EUR][1000 genomes]
rs12675605	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676758	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677524	0.83[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12677793	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12678904	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680652	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681898	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12682004	0.82[ASN][1000 genomes]
rs13250948	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259268	0.84[EUR][1000 genomes]
rs13262954	0.86[EUR][1000 genomes]
rs13265309	0.86[EUR][1000 genomes]
rs13266739	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13268122	0.86[EUR][1000 genomes]
rs13270263	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13279448	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16871500	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1837203	0.86[EUR][1000 genomes]
rs2880074	0.86[EUR][1000 genomes]
rs33999897	0.86[EUR][1000 genomes]
rs34008887	0.81[EUR][1000 genomes]
rs34145689	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155810	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34155867	0.86[EUR][1000 genomes]
rs34255383	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34299626	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34306176	0.86[EUR][1000 genomes]
rs34435802	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34493777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34556973	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34695252	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34873943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34881302	0.86[EUR][1000 genomes]
rs34971735	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35013911	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35140929	0.86[EUR][1000 genomes]
rs35263244	0.84[EUR][1000 genomes]
rs35349928	0.82[ASN][1000 genomes]
rs35379160	0.81[EUR][1000 genomes]
rs35394104	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35467682	0.81[EUR][1000 genomes]
rs35517423	0.83[EUR][1000 genomes]
rs35635659	0.83[EUR][1000 genomes]
rs35649342	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35767747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35795037	0.86[EUR][1000 genomes]
rs4288345	0.86[EUR][1000 genomes]
rs4552868	0.86[EUR][1000 genomes]
rs4593510	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67089516	0.81[EUR][1000 genomes]
rs67555988	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984152	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6990243	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6994764	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6995010	0.83[EUR][1000 genomes]
rs7004507	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7009594	0.86[EUR][1000 genomes]
rs71520889	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520891	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520892	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71520897	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71520900	0.86[EUR][1000 genomes]
rs71520901	0.86[EUR][1000 genomes]
rs731126	0.81[EUR][1000 genomes]
rs7821181	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7824500	0.81[EUR][1000 genomes]
rs7834086	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842204	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7845137	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016087	chr8:105228670-105934368	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1026754	chr8:105382508-106030916	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv539709	chr8:105382508-106030916	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv831417	chr8:105455814-105625608	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv508522	chr8:105532034-105614403	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:105499200-105542200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:105503800-105535800	Weak transcription	NHDF-Ad	bronchial
3	chr8:105509600-105535800	Weak transcription	Aorta	Aorta
4	chr8:105510200-105546200	Weak transcription	HMEC	breast
5	chr8:105510400-105539400	Weak transcription	HSMMtube	muscle
6	chr8:105511800-105532600	Weak transcription	HSMM	muscle
7	chr8:105511800-105550200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:105512800-105542000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:105512800-105550200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:105515200-105542400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:105519800-105534400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:105520400-105534800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:105520600-105537400	Weak transcription	NH-A	brain
14	chr8:105520800-105536600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:105521000-105540000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:105521400-105540000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:105521800-105568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:105527200-105543000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr8:105527400-105535600	Weak transcription	K562	blood
20	chr8:105527600-105534000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:105527800-105549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:105530200-105532600	Enhancers	Dnd41	blood
23	chr8:105530200-105540000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:105530200-105542600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:105531400-105534400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:105531400-105544600	Weak transcription	Brain Anterior Caudate	brain
27	chr8:105531600-105540000	Weak transcription	Fetal Thymus	thymus
28	chr8:105531600-105540400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:105531600-105542200	Weak transcription	Thymus	Thymus
30	chr8:105531800-105534400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links