Variant report

Variant	rs547892
Chromosome Location	chr11:65846200-65846201
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65845058..65846720-chr11:65854451..65856347,2	K562	blood:
2	chr11:65844532..65851114-chr11:65890610..65896417,9	MCF-7	breast:
3	chr11:65845492..65848054-chr11:65910423..65911966,2	MCF-7	breast:
4	chr11:65846039..65848374-chr11:65888360..65890494,2	MCF-7	breast:
5	chr11:65840513..65843599-chr11:65845942..65848991,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1151532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190945	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1190946	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1191715	0.96[AFR][1000 genomes]
rs1203551	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203552	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1203801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1630638	0.96[AFR][1000 genomes]
rs1783562	0.92[AFR][1000 genomes]
rs2430981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2452687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016315	0.85[AFR][1000 genomes]
rs3017606	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs471709	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs472853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs475817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs477001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs485547	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4930332	0.96[AFR][1000 genomes]
rs502898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs504456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505412	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs505642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs510398	0.85[AFR][1000 genomes]
rs512316	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515778	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs519911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs527279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs532265	0.86[AFR][1000 genomes]
rs541954	1.00[AMR][1000 genomes]
rs547282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs549228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs551652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555527	1.00[AMR][1000 genomes]
rs555826	0.85[AFR][1000 genomes]
rs560105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs560983	0.83[AFR][1000 genomes]
rs561199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs561869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs567414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs568423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs571368	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs572697	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs577301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs581247	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591196	0.92[AFR][1000 genomes]
rs693382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7934588	0.89[AFR][1000 genomes]
rs7947668	0.96[AFR][1000 genomes]
rs948477	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65839000-65849800	Weak transcription	Psoas Muscle	Psoas
2	chr11:65839200-65846800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:65839200-65847600	Weak transcription	Brain Hippocampus Middle	brain
4	chr11:65839200-65847800	Weak transcription	Colonic Mucosa	Colon
5	chr11:65839400-65847200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:65839400-65847200	Weak transcription	Right Atrium	heart
7	chr11:65839400-65847600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:65839400-65847600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:65839400-65847600	Weak transcription	Small Intestine	intestine
10	chr11:65839400-65847800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:65839400-65848800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:65839400-65850400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:65839400-65850400	Weak transcription	Fetal Intestine Large	intestine
14	chr11:65839400-65850800	Weak transcription	Liver	Liver
15	chr11:65839400-65850800	Weak transcription	Fetal Kidney	kidney
16	chr11:65839400-65850800	Weak transcription	Right Ventricle	heart
17	chr11:65839600-65850400	Weak transcription	Brain Substantia Nigra	brain
18	chr11:65839600-65854600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:65840000-65846600	Strong transcription	Fetal Muscle Leg	muscle
20	chr11:65840000-65847400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr11:65840000-65847600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:65840000-65847600	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:65840200-65846200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
24	chr11:65840200-65848000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr11:65840200-65848200	Strong transcription	Fetal Stomach	stomach
26	chr11:65840400-65847600	Weak transcription	HUVEC	blood vessel
27	chr11:65840600-65850800	Weak transcription	Brain Germinal Matrix	brain
28	chr11:65840600-65870600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:65840800-65847200	Weak transcription	Lung	lung
30	chr11:65840800-65850400	Weak transcription	Fetal Brain Male	brain
31	chr11:65840800-65850800	Weak transcription	Brain Angular Gyrus	brain
32	chr11:65841000-65846400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:65841000-65847000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:65841000-65847200	Weak transcription	HepG2	liver
35	chr11:65841000-65847800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr11:65842000-65846200	Weak transcription	Placenta	Placenta
37	chr11:65842000-65849600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:65842200-65847200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:65842200-65847200	Weak transcription	Brain Anterior Caudate	brain
40	chr11:65842200-65847200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:65842200-65847400	Weak transcription	NH-A	brain
42	chr11:65842200-65847600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr11:65842200-65847600	Weak transcription	Dnd41	blood
44	chr11:65842200-65848000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr11:65842200-65848800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr11:65842200-65850400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:65842200-65850600	Weak transcription	Fetal Lung	lung
48	chr11:65842200-65867800	Weak transcription	Ovary	ovary
49	chr11:65842400-65847200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr11:65842400-65847800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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