Variant report

Variant	rs1484641
Chromosome Location	chr8:9986524-9986525
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9985280..9987758-chr8:9989379..9992085,2	K562	blood:
2	chr8:9985940..9988660-chr8:9990986..9993361,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10089339	1.00[CHB][hapmap]
rs10097184	1.00[CHB][hapmap]
rs10111917	1.00[CHB][hapmap]
rs10903321	1.00[CHB][hapmap]
rs11249969	0.81[YRI][hapmap]
rs11249970	1.00[YRI][hapmap]
rs11774220	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11776035	1.00[CHB][hapmap]
rs11776973	1.00[CHB][hapmap]
rs11780122	1.00[CHB][hapmap]
rs11783705	1.00[CHB][hapmap]
rs11785434	0.95[YRI][hapmap]
rs11786541	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs12156387	1.00[CHB][hapmap]
rs12678938	1.00[CHD][hapmap]
rs12679328	1.00[YRI][hapmap]
rs13250499	0.94[YRI][hapmap]
rs13252589	0.89[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259465	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13261836	1.00[YRI][hapmap]
rs13263482	1.00[CHB][hapmap]
rs13272793	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13279701	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];1.00[ASN][1000 genomes]
rs13282752	1.00[CHB][hapmap]
rs17150816	1.00[CHB][hapmap]
rs17151658	1.00[CHB][hapmap]
rs17151667	1.00[CHB][hapmap]
rs17151675	1.00[CHB][hapmap]
rs17151684	1.00[CHB][hapmap]
rs17151699	1.00[CHB][hapmap]
rs17151713	1.00[CHB][hapmap]
rs17151728	1.00[CHB][hapmap]
rs17151741	1.00[CHB][hapmap]
rs17151745	1.00[CHB][hapmap]
rs17151748	1.00[CHB][hapmap]
rs17151763	1.00[CHB][hapmap]
rs17689007	0.89[CEU][hapmap];0.83[AMR][1000 genomes]
rs17689037	0.89[CEU][hapmap];0.83[AMR][1000 genomes]
rs17689289	0.89[CEU][hapmap];0.84[MEX][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17690549	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17693945	1.00[CHB][hapmap]
rs17694485	1.00[CHB][hapmap]
rs17707665	1.00[CHB][hapmap]
rs17707988	1.00[CHB][hapmap]
rs17708090	1.00[CHB][hapmap]
rs17708114	1.00[CHB][hapmap]
rs17746227	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17746245	0.92[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17747335	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.88[MEX][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17750324	1.00[CHB][hapmap]
rs17751178	1.00[CHB][hapmap]
rs2409632	1.00[YRI][hapmap]
rs34748716	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34990153	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3885723	0.92[CEU][hapmap];0.83[MEX][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4240640	1.00[CHB][hapmap]
rs483916	1.00[CHB][hapmap]
rs4840462	1.00[YRI][hapmap]
rs4840467	1.00[CHB][hapmap]
rs4841294	1.00[CHB][hapmap]
rs4841295	1.00[CHB][hapmap]
rs4841296	1.00[CHB][hapmap]
rs4841312	1.00[CHB][hapmap]
rs55683917	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60278284	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60384372	0.81[AMR][1000 genomes]
rs6985941	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986885	0.81[CEU][hapmap]
rs6994060	1.00[CHB][hapmap]
rs6997224	1.00[CHB][hapmap]
rs6997865	0.94[YRI][hapmap]
rs7012221	0.94[YRI][hapmap]
rs7014570	1.00[CHB][hapmap]
rs7822745	1.00[CHB][hapmap]
rs7832431	1.00[YRI][hapmap]
rs7835507	1.00[CHB][hapmap]
rs7835960	1.00[CHB][hapmap]
rs7840347	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916493	chr8:9806580-10029482	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv610263	chr8:9941021-10090149	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv1034343	chr8:9948342-10014155	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv831230	chr8:9953343-10139350	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1027280	chr8:9958259-10058984	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1850829	chr8:9958321-10045451	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1484641	FLJ10661	cis	cerebellum	SCAN
rs1484641	MSRA	cis	lymphoblastoid	seeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9970600-9995800	Weak transcription	Pancreas	Pancrea
2	chr8:9975600-9987400	Weak transcription	Brain Germinal Matrix	brain
3	chr8:9977000-9988000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:9978200-9988000	Weak transcription	Fetal Brain Female	brain
5	chr8:9980600-9988200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:9983800-9988200	Weak transcription	Aorta	Aorta
7	chr8:9984600-9987000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:9984600-9990800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:9985800-9986800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:9986000-9987200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:9986200-10002200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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