Variant report

Variant	rs56186491
Chromosome Location	chr22:29541931-29541932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16987164	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs713526	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73397005	0.84[AFR][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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv817986	chr22:29540297-29568963	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr22:29517200-29546200	Strong transcription	Dnd41	blood
3	chr22:29523400-29548200	Weak transcription	Stomach Mucosa	stomach
4	chr22:29525800-29544400	Weak transcription	NHLF	lung
5	chr22:29526200-29542800	Weak transcription	Fetal Heart	heart
6	chr22:29526200-29547000	Weak transcription	K562	blood
7	chr22:29527600-29548000	Strong transcription	Fetal Intestine Small	intestine
8	chr22:29528600-29544400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr22:29529400-29547000	Strong transcription	Thymus	Thymus
10	chr22:29530800-29546800	Genic enhancers	Fetal Muscle Leg	muscle
11	chr22:29531600-29542800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr22:29531600-29548400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:29533000-29543200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:29533000-29545600	Strong transcription	Fetal Intestine Large	intestine
15	chr22:29533200-29543200	Strong transcription	Fetal Stomach	stomach
16	chr22:29533600-29542400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr22:29533800-29543600	Strong transcription	Fetal Brain Female	brain
18	chr22:29534800-29545600	Weak transcription	Aorta	Aorta
19	chr22:29536400-29542400	Weak transcription	Brain Substantia Nigra	brain
20	chr22:29536400-29543000	Weak transcription	Brain Angular Gyrus	brain
21	chr22:29536600-29543000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr22:29536600-29548200	Weak transcription	Fetal Kidney	kidney
23	chr22:29537000-29543600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr22:29537200-29542000	Strong transcription	Right Ventricle	heart
25	chr22:29537200-29543600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr22:29537200-29548200	Weak transcription	Fetal Brain Male	brain
27	chr22:29537400-29545800	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr22:29538000-29543400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr22:29538200-29542000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:29538200-29543000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr22:29538200-29545600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr22:29538400-29544400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:29538400-29547400	Weak transcription	Pancreas	Pancrea
34	chr22:29538400-29548200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr22:29538600-29542000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr22:29538600-29542000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr22:29538600-29542000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr22:29538600-29542000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr22:29538600-29542200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:29538600-29543000	Weak transcription	Left Ventricle	heart
41	chr22:29538800-29542800	Weak transcription	Liver	Liver
42	chr22:29538800-29543400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:29538800-29548000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr22:29539400-29546000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr22:29539400-29546200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:29539800-29542000	Genic enhancers	Placenta	Placenta
47	chr22:29539800-29542200	Enhancers	HSMMtube	muscle
48	chr22:29539800-29543600	Enhancers	Psoas Muscle	Psoas
49	chr22:29540000-29542600	Strong transcription	Adipose Nuclei	Adipose
50	chr22:29540000-29542600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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