Variant report

Variant	rs134196
Chromosome Location	chr22:28657013-28657014
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	chr22:28655568..28657867-chr22:28658148..28660781,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1303845	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs134172	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs134179	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs134180	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs134188	0.96[ASN][1000 genomes]
rs134489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs134500	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs134507	0.92[JPT][hapmap]
rs134522	0.82[CEU][hapmap]
rs134529	0.84[CEU][hapmap]
rs134541	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs134543	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs134545	0.81[CEU][hapmap]
rs134548	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs134551	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs138683	0.90[YRI][hapmap]
rs2223370	0.97[ASN][1000 genomes]
rs4822952	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs5752743	0.86[JPT][hapmap]
rs6005754	0.81[CEU][hapmap]
rs695591	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs695625	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs715517	0.92[ASN][1000 genomes]
rs7284814	0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs8140229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.84[ASN][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28644200-28661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr22:28644400-28662400	Weak transcription	Psoas Muscle	Psoas
4	chr22:28646000-28664000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr22:28651600-28663000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr22:28651800-28690600	Weak transcription	Dnd41	blood
7	chr22:28653000-28664200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr22:28653000-28665000	Weak transcription	Fetal Muscle Leg	muscle
9	chr22:28653000-28671600	Weak transcription	Fetal Stomach	stomach
10	chr22:28655600-28657200	Enhancers	Colon Smooth Muscle	Colon
11	chr22:28655600-28657200	Enhancers	Fetal Heart	heart
12	chr22:28655800-28657200	Enhancers	Fetal Brain Male	brain
13	chr22:28655800-28657200	Enhancers	Ovary	ovary
14	chr22:28656000-28661200	Weak transcription	Aorta	Aorta
15	chr22:28656200-28662400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr22:28656600-28657200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr22:28656600-28657400	Enhancers	Left Ventricle	heart
18	chr22:28656800-28657200	Enhancers	Right Ventricle	heart
19	chr22:28656800-28666000	Weak transcription	Small Intestine	intestine
20	chr22:28657000-28657200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:28657000-28657200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr22:28657000-28658200	Weak transcription	Fetal Lung	lung
23	chr22:28657000-28662400	Weak transcription	Adipose Nuclei	Adipose
24	chr22:28657000-28664200	Weak transcription	Brain Angular Gyrus	brain
25	chr22:28657000-28691600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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