Variant report

Variant	rs12280878
Chromosome Location	chr11:64438617-64438618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	11:64402707-64415880..11:64437729-64442269	Hela-S3	cervix:
2	chr11:64425777..64427856-chr11:64437431..64439738,2	K562	blood:
3	chr11:64438426..64440593-chr11:64443252..64446276,3	K562	blood:
4	chr11:64432055..64434401-chr11:64438499..64440363,2	MCF-7	breast:
5	chr11:64423611..64425758-chr11:64437675..64439983,2	K562	blood:

Variant related genes	Relation type
ENSG00000110076	Chromatin interaction
ENSG00000237410	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

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]
rs12275514	1.00[EUR][1000 genomes]
rs12278771	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]
rs7927181	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]
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:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897693	chr11:64305452-64440920	Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64421200-64453800	Weak transcription	Fetal Brain Male	brain
2	chr11:64428800-64440400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:64428800-64442600	Weak transcription	Right Atrium	heart
4	chr11:64428800-64442800	Weak transcription	Aorta	Aorta
5	chr11:64429400-64439600	Weak transcription	Brain Substantia Nigra	brain
6	chr11:64429400-64442800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:64431600-64442000	Weak transcription	Brain Anterior Caudate	brain
8	chr11:64433000-64438800	Strong transcription	Brain Germinal Matrix	brain
9	chr11:64433600-64443200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:64434400-64438800	Strong transcription	Fetal Brain Female	brain
11	chr11:64436000-64440600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:64436200-64439000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:64436200-64440200	Weak transcription	Brain Angular Gyrus	brain
14	chr11:64436400-64438800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:64436400-64442600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:64436600-64442000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:64436600-64442400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:64436800-64439800	Enhancers	Spleen	Spleen
19	chr11:64437200-64438800	Enhancers	Adipose Nuclei	Adipose
20	chr11:64437200-64439200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr11:64437600-64442400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:64437800-64438800	Enhancers	Duodenum Mucosa	Duodenum
23	chr11:64437800-64438800	Enhancers	Fetal Intestine Small	intestine
24	chr11:64437800-64440600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr11:64438000-64439200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr11:64438000-64439800	Enhancers	Brain Hippocampus Middle	brain
27	chr11:64438400-64439600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:64438600-64438800	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr11:64438600-64438800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr11:64438600-64439800	Weak transcription	K562	blood

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