Variant report

Variant	rs11811186
Chromosome Location	chr1:85849468-85849469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85839312..85843099-chr1:85847023..85851233,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10489509	1.00[AMR][1000 genomes]
rs10489512	1.00[AMR][1000 genomes]
rs10873699	1.00[AMR][1000 genomes]
rs11161596	1.00[AMR][1000 genomes]
rs11799987	1.00[AMR][1000 genomes]
rs11802126	1.00[AMR][1000 genomes]
rs11805144	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805470	1.00[AMR][1000 genomes]
rs11806483	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809053	1.00[AMR][1000 genomes]
rs12059670	1.00[AMR][1000 genomes]
rs12071648	1.00[AMR][1000 genomes]
rs12082194	1.00[AMR][1000 genomes]
rs17126044	1.00[AMR][1000 genomes]
rs17126791	1.00[AMR][1000 genomes]
rs182845	1.00[AMR][1000 genomes]
rs20862	1.00[AMR][1000 genomes]
rs233063	1.00[AMR][1000 genomes]
rs233064	1.00[AMR][1000 genomes]
rs233122	1.00[AMR][1000 genomes]
rs233126	1.00[AMR][1000 genomes]
rs233129	1.00[AMR][1000 genomes]
rs2474121	1.00[AMR][1000 genomes]
rs41438644	1.00[AMR][1000 genomes]
rs4399206	1.00[AMR][1000 genomes]
rs57053091	1.00[AMR][1000 genomes]
rs57527592	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57769466	1.00[AMR][1000 genomes]
rs60176254	1.00[AMR][1000 genomes]
rs60202981	1.00[AMR][1000 genomes]
rs61473029	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85839800-85864200	Weak transcription	Aorta	Aorta
2	chr1:85841200-85851400	Weak transcription	Pancreas	Pancrea
3	chr1:85841200-85859800	Weak transcription	NH-A	brain
4	chr1:85842000-85850800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:85845000-85852800	Strong transcription	Osteobl	bone
6	chr1:85845000-85870000	Weak transcription	HSMMtube	muscle
7	chr1:85845800-85859800	Weak transcription	NHLF	lung
8	chr1:85846200-85852800	Strong transcription	HSMM	muscle
9	chr1:85846400-85850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:85847200-85850200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:85847600-85849600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr1:85847800-85849600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:85847800-85850000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:85848400-85850800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:85848600-85851600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:85849000-85850200	Strong transcription	NHDF-Ad	bronchial
17	chr1:85849000-85852000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:85849200-85849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:85849200-85853000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:85849400-85850000	Weak transcription	HUVEC	blood vessel
21	chr1:85849400-85850400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:85849400-85861600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:85849400-85863400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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