Variant report

Variant	rs2084077
Chromosome Location	chr11:85652927-85652928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85652279..85653016-chr11:86002549..86003329,2	K562	blood:
2	chr11:85652016..85653035-chr11:85985052..85986168,4	MCF-7	breast:
3	chr11:85652247..85653318-chr11:86002213..86003416,4	MCF-7	breast:
4	chr11:85652479..85653394-chr11:85929080..85930321,4	MCF-7	breast:
5	chr11:85652246..85655077-chr11:85661879..85663462,2	K562	blood:
6	chr11:85650684..85656124-chr11:85659031..85663462,6	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10128700	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10501603	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10501605	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10501607	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10501610	1.00[LWK][hapmap]
rs10898431	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs11234489	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11234492	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11234496	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11234502	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11234512	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11234513	0.94[CEU][hapmap];0.93[EUR][1000 genomes]
rs11234517	0.94[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs11234544	0.88[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap]
rs12270433	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12278260	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12279956	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12281494	0.81[EUR][1000 genomes]
rs12281958	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12282655	0.87[EUR][1000 genomes]
rs12284629	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12287170	0.93[EUR][1000 genomes]
rs12294130	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1596739	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17159904	0.86[GIH][hapmap];0.87[TSI][hapmap]
rs17744938	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17745105	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17745153	0.94[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17745236	0.93[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17745248	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17745273	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17817582	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17817588	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17817690	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17817859	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17817883	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17817919	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17817956	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2001241	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs41381550	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4943934	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4943936	0.87[AMR][1000 genomes]
rs4943937	0.93[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]
rs4944550	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4944551	0.93[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4944552	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4944553	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4944554	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4944555	0.92[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4944556	0.94[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs55697624	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55791429	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55815523	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56026701	0.90[EUR][1000 genomes]
rs56187740	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57125313	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58937798	0.90[EUR][1000 genomes]
rs60185300	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72947601	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72949419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72949429	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72949443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72950443	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72950453	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72950456	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72951266	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72951268	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72959177	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72959197	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72959906	0.81[EUR][1000 genomes]
rs72961110	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72961111	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72963077	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72963086	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72963092	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72965157	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72965166	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7927222	0.88[CEU][hapmap];0.86[GIH][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7943152	0.94[CEU][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1035489	chr11:85502953-85778229	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1048818	chr11:85524635-85746473	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv541116	chr11:85524635-85746473	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1053808	chr11:85588919-85757693	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv1053599	chr11:85641619-85684353	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv1040567	chr11:85641619-85684935	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2084077	FAM181B	cis	parietal	SCAN
rs2084077	CCDC83	cis	parietal	SCAN
rs2084077	GRM5	cis	cerebellum	SCAN
rs2084077	PICALM	cis	cerebellum	SCAN
rs2084077	SYTL2	cis	cerebellum	SCAN

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85646000-85656600	Weak transcription	Right Atrium	heart
2	chr11:85646600-85660000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:85646600-85667400	Weak transcription	Gastric	stomach
4	chr11:85651000-85656600	Weak transcription	HepG2	liver
5	chr11:85651000-85657000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr11:85651200-85657000	Weak transcription	Liver	Liver
7	chr11:85652600-85653000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:85652600-85653000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:85652600-85653000	Enhancers	Brain Angular Gyrus	brain
10	chr11:85652600-85653000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr11:85652600-85653000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:85652600-85653000	Enhancers	Left Ventricle	heart
13	chr11:85652600-85653000	Enhancers	Ovary	ovary
14	chr11:85652800-85653000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:85652800-85653000	Enhancers	K562	blood
16	chr11:85652800-85653000	Flanking Active TSS	Osteobl	bone
17	chr11:85652800-85664400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:85652800-85668800	Weak transcription	Small Intestine	intestine

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