Variant report

Variant	rs134653
Chromosome Location	chr22:29486779-29486780
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29486627..29489970-chr22:29658706..29660641,3	K562	blood:
2	chr22:29486742..29489044-chr22:29491221..29492780,2	K562	blood:

Variant related genes	Relation type
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12329960	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134560	0.85[MEX][hapmap]
rs134564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134577	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs134588	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134596	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134598	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs134605	1.00[GIH][hapmap];0.83[TSI][hapmap]
rs134607	1.00[GIH][hapmap];0.83[TSI][hapmap]
rs134608	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs134609	1.00[GIH][hapmap];0.83[TSI][hapmap]
rs134622	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs134630	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs134631	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134637	0.86[GIH][hapmap];0.83[TSI][hapmap]
rs134641	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134644	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs134660	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs134666	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134669	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134670	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134672	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs134676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs134677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs20037	1.00[GIH][hapmap];0.83[TSI][hapmap]
rs4347951	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5752864	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7292708	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs783	0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs134653	TBC1D10A	cis	cerebellum	SCAN
rs134653	KREMEN1	cis	Heart Left Ventricle	GTEx
rs134653	MORC2	cis	cerebellum	SCAN
rs134653	EMID1	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29471400-29488000	Weak transcription	Right Ventricle	heart
2	chr22:29472400-29489000	Weak transcription	Fetal Intestine Small	intestine
3	chr22:29475000-29489200	Weak transcription	Fetal Intestine Large	intestine
4	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
6	chr22:29476400-29487800	Weak transcription	Brain Hippocampus Middle	brain
7	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
9	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:29476800-29487600	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:29478800-29489600	Weak transcription	Dnd41	blood
13	chr22:29478800-29490200	Weak transcription	Thymus	Thymus
14	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
15	chr22:29479600-29489200	Weak transcription	Fetal Kidney	kidney
16	chr22:29480400-29488000	Weak transcription	Fetal Thymus	thymus
17	chr22:29480600-29487400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:29480600-29489600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:29480800-29487600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr22:29480800-29492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr22:29485800-29492200	Weak transcription	K562	blood
24	chr22:29486000-29487200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr22:29486000-29487200	Weak transcription	Fetal Muscle Leg	muscle
26	chr22:29486000-29487600	Weak transcription	Ovary	ovary
27	chr22:29486000-29487800	Weak transcription	Left Ventricle	heart
28	chr22:29486000-29487800	Weak transcription	Lung	lung
29	chr22:29486000-29487800	Weak transcription	Pancreas	Pancrea
30	chr22:29486000-29487800	Weak transcription	Right Atrium	heart
31	chr22:29486000-29488000	Weak transcription	Gastric	stomach
32	chr22:29486000-29488000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr22:29486000-29489600	Weak transcription	Brain Angular Gyrus	brain
34	chr22:29486000-29489600	Weak transcription	Esophagus	oesophagus
35	chr22:29486000-29491000	Weak transcription	Colonic Mucosa	Colon
36	chr22:29486000-29492600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr22:29486200-29490800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:29486200-29491000	Weak transcription	Fetal Brain Female	brain
39	chr22:29486400-29487000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:29486400-29487400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr22:29486400-29487600	Weak transcription	Brain Anterior Caudate	brain
42	chr22:29486400-29487800	Weak transcription	Liver	Liver
43	chr22:29486400-29488000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr22:29486400-29488000	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr22:29486400-29488200	Weak transcription	Stomach Mucosa	stomach
46	chr22:29486400-29488200	Weak transcription	HepG2	liver
47	chr22:29486400-29489400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr22:29486600-29487600	Weak transcription	Fetal Lung	lung
49	chr22:29486600-29487600	Weak transcription	Fetal Stomach	stomach
50	chr22:29486600-29494800	Weak transcription	NHEK	skin

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