Variant report

Variant	rs7927181
Chromosome Location	chr11:64442398-64442399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64440214..64441747-chr11:64441770..64443927,2	K562	blood:
2	chr11:64442311..64444826-chr11:64460106..64462040,2	MCF-7	breast:
3	chr11:64442204..64444701-chr11:64445796..64447782,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11231806	1.00[TSI][hapmap]
rs11231863	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11231865	1.00[TSI][hapmap]
rs11821081	1.00[TSI][hapmap]
rs1212851	1.00[TSI][hapmap]
rs12269866	1.00[EUR][1000 genomes]
rs12271728	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12278771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280878	1.00[ASW][hapmap];0.86[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12285502	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146107	1.00[AMR][1000 genomes]
rs17146119	1.00[TSI][hapmap]
rs17146417	1.00[EUR][1000 genomes]
rs2022048	1.00[TSI][hapmap]
rs2666561	1.00[TSI][hapmap]
rs41323046	1.00[TSI][hapmap]
rs475704	1.00[TSI][hapmap]
rs512926	1.00[TSI][hapmap]
rs534052	1.00[TSI][hapmap]
rs535606	1.00[TSI][hapmap]
rs545819	1.00[TSI][hapmap]
rs547280	1.00[TSI][hapmap]
rs550930	1.00[TSI][hapmap]
rs553618	1.00[TSI][hapmap]
rs573545	1.00[TSI][hapmap]
rs6591863	1.00[TSI][hapmap]
rs7127422	1.00[ASW][hapmap];0.85[YRI][hapmap]
rs71526475	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71579856	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71579878	1.00[EUR][1000 genomes]
rs71579896	1.00[AMR][1000 genomes]
rs71581770	1.00[EUR][1000 genomes]
rs71581787	1.00[EUR][1000 genomes]
rs71583703	1.00[EUR][1000 genomes]
rs7948607	1.00[TSI][hapmap]
rs7948832	1.00[TSI][hapmap]
rs9326434	1.00[TSI][hapmap]
rs9666331	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422214	chr11:64312491-64483418	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv832188	chr11:64315368-64485209	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
7	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
8	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
10	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
12	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 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	chr11:64421200-64453800	Weak transcription	Fetal Brain Male	brain
2	chr11:64428800-64442600	Weak transcription	Right Atrium	heart
3	chr11:64428800-64442800	Weak transcription	Aorta	Aorta
4	chr11:64429400-64442800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:64433600-64443200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:64436400-64442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:64436600-64442400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:64437600-64442400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:64438800-64443200	Weak transcription	Fetal Brain Female	brain
10	chr11:64439600-64442400	Weak transcription	Left Ventricle	heart
11	chr11:64439800-64443000	Weak transcription	Spleen	Spleen
12	chr11:64439800-64443800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:64440000-64442400	Enhancers	GM12878-XiMat	blood
14	chr11:64440200-64442400	Weak transcription	HSMMtube	muscle
15	chr11:64440600-64442600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr11:64440600-64443000	Weak transcription	Primary B cells from cord blood	blood
17	chr11:64440800-64442600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:64441200-64442400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:64441200-64442400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:64441400-64442400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:64441400-64443400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:64441600-64442800	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr11:64441800-64442600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr11:64441800-64444000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr11:64442000-64442400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:64442000-64442400	Enhancers	Fetal Intestine Small	intestine
27	chr11:64442000-64442600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:64442000-64442600	Enhancers	NHDF-Ad	bronchial
29	chr11:64442000-64442800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:64442000-64442800	Enhancers	Adipose Nuclei	Adipose
31	chr11:64442000-64443200	Enhancers	Osteobl	bone
32	chr11:64442000-64444000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:64442000-64444000	Enhancers	Brain Anterior Caudate	brain
34	chr11:64442200-64443400	Enhancers	Liver	Liver
35	chr11:64442200-64443800	Enhancers	Psoas Muscle	Psoas
36	chr11:64442200-64444000	Bivalent Enhancer	NHLF	lung
37	chr11:64442200-64444200	Strong transcription	Brain Germinal Matrix	brain
38	chr11:64442200-64445400	Enhancers	Brain Hippocampus Middle	brain

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