Variant report

Variant	rs59387171
Chromosome Location	chr11:17397599-17397600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:17397576-17399242	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:17393968-17398745	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17392236..17395328-chr11:17396635..17401653,4	K562	blood:
2	chr11:17386801..17391541-chr11:17392806..17398479,7	K562	blood:

Variant related genes	Relation type
ENSG00000260196	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16934019	1.00[EUR][1000 genomes]
rs16934040	1.00[EUR][1000 genomes]
rs57778283	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57988393	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60748921	1.00[EUR][1000 genomes]
rs61138172	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7112244	1.00[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	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv467712	chr11:17393644-17418477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv553583	chr11:17393644-17418477	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17382400-17401200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:17387200-17398600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:17389000-17398200	ZNF genes & repeats	Ovary	ovary
4	chr11:17394200-17401600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:17394200-17401800	Strong transcription	HepG2	liver
6	chr11:17394200-17407600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:17394400-17400800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:17394400-17402600	Weak transcription	HUVEC	blood vessel
9	chr11:17394400-17403600	Weak transcription	NHLF	lung
10	chr11:17394400-17405000	Weak transcription	Brain Angular Gyrus	brain
11	chr11:17394400-17410200	Weak transcription	A549	lung
12	chr11:17394600-17398000	Weak transcription	Primary T cells from cord blood	blood
13	chr11:17394600-17400000	Strong transcription	Fetal Intestine Large	intestine
14	chr11:17394600-17401600	Strong transcription	K562	blood
15	chr11:17394800-17400000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:17394800-17400200	Weak transcription	Brain Hippocampus Middle	brain
17	chr11:17395000-17401200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:17395000-17402600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr11:17395200-17397800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:17395200-17398000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:17395200-17402400	Weak transcription	NHDF-Ad	bronchial
22	chr11:17395200-17402600	Weak transcription	Osteobl	bone
23	chr11:17395200-17405200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:17395200-17405800	Weak transcription	Gastric	stomach
25	chr11:17395200-17410200	Weak transcription	Thymus	Thymus
26	chr11:17395400-17398800	Weak transcription	HSMMtube	muscle
27	chr11:17395400-17400200	Weak transcription	Hela-S3	cervix
28	chr11:17395600-17406200	Weak transcription	Pancreas	Pancrea
29	chr11:17395600-17410200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr11:17395600-17410400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:17395800-17399200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:17395800-17399200	Weak transcription	NHEK	skin
33	chr11:17395800-17400000	Weak transcription	Brain Germinal Matrix	brain
34	chr11:17395800-17400200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:17395800-17403600	Strong transcription	Duodenum Mucosa	Duodenum
36	chr11:17395800-17405200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr11:17395800-17405400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:17395800-17405400	Weak transcription	Left Ventricle	heart
39	chr11:17395800-17409200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:17396000-17398200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:17396000-17408800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:17396200-17398400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr11:17396400-17402000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:17396600-17398600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:17396600-17404600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr11:17396600-17410200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr11:17396800-17398400	Weak transcription	Fetal Intestine Small	intestine
48	chr11:17396800-17399000	Strong transcription	Dnd41	blood
49	chr11:17396800-17400200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:17396800-17400200	Weak transcription	HSMM	muscle

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