Variant report

Variant	rs56408531
Chromosome Location	chr11:67861429-67861430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67854850..67857666-chr11:67861166..67863818,2	K562	blood:
2	chr11:67855551..67858335-chr11:67859728..67862327,2	K562	blood:

Variant related genes	Relation type
ENSG00000110721	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11825872	1.00[AMR][1000 genomes]
rs17148849	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55886955	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56907094	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61329983	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73505268	0.97[AFR][1000 genomes];1.00[AMR][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	nsv427892	chr11:67451649-67926562	Bivalent Enhancer Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
2	esv2757450	chr11:67472905-67891289	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
3	esv2759835	chr11:67472905-67891289	Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	112 gene(s)	inside rSNPs	diseases
4	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67812200-67875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:67831400-67884400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:67831600-67867000	Weak transcription	Small Intestine	intestine
4	chr11:67838000-67867000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:67838000-67879200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:67838600-67864400	Weak transcription	Osteobl	bone
7	chr11:67839200-67870600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:67839800-67873200	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:67839800-67886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:67842400-67867000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:67846200-67867000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:67848400-67886400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:67848800-67865800	Weak transcription	K562	blood
14	chr11:67848800-67866200	Weak transcription	Right Ventricle	heart
15	chr11:67848800-67867000	Weak transcription	Placenta	Placenta
16	chr11:67848800-67874200	Weak transcription	Colonic Mucosa	Colon
17	chr11:67849000-67866400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:67849000-67866800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:67849000-67867000	Weak transcription	Ovary	ovary
20	chr11:67849000-67885400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:67849200-67867000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:67849400-67867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:67849400-67867000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:67849400-67867000	Weak transcription	Thymus	Thymus
25	chr11:67849400-67873800	Weak transcription	Spleen	Spleen
26	chr11:67849400-67887400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:67849600-67861600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:67849600-67861600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:67850200-67867000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:67850400-67874000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:67850800-67866200	Weak transcription	Left Ventricle	heart
32	chr11:67850800-67867000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:67850800-67875200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr11:67851400-67864400	Weak transcription	Pancreas	Pancrea
35	chr11:67851400-67867000	Weak transcription	Psoas Muscle	Psoas
36	chr11:67851400-67873600	Weak transcription	Fetal Stomach	stomach
37	chr11:67856600-67862400	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:67857200-67862000	Enhancers	Brain Angular Gyrus	brain
39	chr11:67857400-67861800	Enhancers	Brain Substantia Nigra	brain
40	chr11:67857400-67862200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr11:67857600-67861600	Weak transcription	Dnd41	blood
42	chr11:67857600-67862400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr11:67857600-67875000	Weak transcription	Lung	lung
44	chr11:67857800-67867200	Weak transcription	Fetal Kidney	kidney
45	chr11:67858400-67861600	Weak transcription	Fetal Heart	heart
46	chr11:67858400-67862400	Enhancers	Brain Hippocampus Middle	brain
47	chr11:67858400-67863400	Weak transcription	Gastric	stomach
48	chr11:67858600-67861600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:67858600-67861800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr11:67858600-67862000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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