Variant report

Variant	rs56340309
Chromosome Location	chr11:73650391-73650392
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	chr11:73649521..73651075-chr11:73655497..73658125,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11821823	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11822794	1.00[EUR][1000 genomes]
rs11824937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11825819	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132408	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132421	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132422	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132438	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132488	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17132555	1.00[EUR][1000 genomes]
rs45476292	1.00[EUR][1000 genomes]
rs45570334	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55840703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55893487	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55939206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56117405	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168571	0.87[AMR][1000 genomes]
rs56723437	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56767203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57579114	1.00[EUR][1000 genomes]
rs58792356	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59621450	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60093210	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60520592	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60924318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61085412	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61581672	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61616797	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61701946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7110607	1.00[EUR][1000 genomes]
rs73543094	0.87[AMR][1000 genomes];1.00[EUR][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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv3441543	chr11:73650332-73658331	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73633200-73652400	Weak transcription	Small Intestine	intestine
2	chr11:73639000-73653000	Weak transcription	K562	blood
3	chr11:73639400-73653200	Weak transcription	Gastric	stomach
4	chr11:73639400-73668000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:73640400-73655000	Weak transcription	Brain Germinal Matrix	brain
6	chr11:73640400-73659200	Weak transcription	HepG2	liver
7	chr11:73640800-73652200	Weak transcription	Fetal Brain Female	brain
8	chr11:73640800-73667000	Weak transcription	Pancreas	Pancrea
9	chr11:73641400-73672200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr11:73642600-73652200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:73642600-73655600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:73642600-73656200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:73642800-73653000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:73644000-73653000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr11:73644200-73652200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:73645400-73655200	Weak transcription	Brain Anterior Caudate	brain
17	chr11:73645600-73655000	Weak transcription	Adipose Nuclei	Adipose
18	chr11:73645600-73655600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:73645800-73655400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:73646200-73650400	Weak transcription	Ovary	ovary
21	chr11:73646200-73653600	Weak transcription	Left Ventricle	heart
22	chr11:73646200-73654400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr11:73646200-73655000	Weak transcription	Brain Hippocampus Middle	brain
24	chr11:73646400-73653600	Weak transcription	Liver	Liver
25	chr11:73648000-73650600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:73648000-73650600	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr11:73649000-73650400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:73650200-73666800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:73650200-73667000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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