Variant report

Variant	rs5762986
Chromosome Location	chr22:29489399-29489400
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29437866..29439720-chr22:29487851..29489925,2	MCF-7	breast:
2	chr22:29219559..29221242-chr22:29488785..29491487,2	MCF-7	breast:
3	chr22:29486627..29489970-chr22:29658706..29660641,3	K562	blood:
4	chr22:29488253..29490159-chr22:29547499..29549684,2	K562	blood:

Variant related genes	Relation type
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13058510	0.92[EUR][1000 genomes]
rs2294242	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34101206	0.93[EUR][1000 genomes]
rs34967120	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5752863	0.93[EUR][1000 genomes]
rs5752866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5762981	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5762982	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5762985	0.95[EUR][1000 genomes]
rs5762987	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs71327333	0.86[EUR][1000 genomes]

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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
3	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
5	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr22:29478800-29489600	Weak transcription	Dnd41	blood
8	chr22:29478800-29490200	Weak transcription	Thymus	Thymus
9	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
10	chr22:29480600-29489600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:29480800-29492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr22:29485800-29492200	Weak transcription	K562	blood
15	chr22:29486000-29489600	Weak transcription	Brain Angular Gyrus	brain
16	chr22:29486000-29489600	Weak transcription	Esophagus	oesophagus
17	chr22:29486000-29491000	Weak transcription	Colonic Mucosa	Colon
18	chr22:29486000-29492600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr22:29486200-29490800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:29486200-29491000	Weak transcription	Fetal Brain Female	brain
21	chr22:29486400-29489400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr22:29486600-29494800	Weak transcription	NHEK	skin
23	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
24	chr22:29487000-29489400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:29487200-29490200	Enhancers	Fetal Muscle Leg	muscle
26	chr22:29487400-29489600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr22:29487600-29489400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr22:29487600-29489800	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr22:29487600-29490200	Enhancers	Fetal Stomach	stomach
30	chr22:29487600-29490400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr22:29487600-29491000	Enhancers	Fetal Lung	lung
32	chr22:29487600-29491000	Enhancers	Ovary	ovary
33	chr22:29487800-29490400	Enhancers	Liver	Liver
34	chr22:29487800-29490400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:29488000-29489400	Enhancers	Duodenum Mucosa	Duodenum
36	chr22:29488000-29489600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr22:29488000-29489600	Enhancers	Small Intestine	intestine
38	chr22:29488000-29490400	Enhancers	Colon Smooth Muscle	Colon
39	chr22:29488200-29489400	Enhancers	Stomach Mucosa	stomach
40	chr22:29488200-29490000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr22:29488400-29489400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr22:29488400-29489800	Weak transcription	Brain Anterior Caudate	brain
43	chr22:29488400-29490000	Weak transcription	Fetal Thymus	thymus
44	chr22:29488400-29490200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr22:29488400-29492400	Weak transcription	Right Ventricle	heart
46	chr22:29488400-29521200	Weak transcription	Lung	lung
47	chr22:29488600-29489400	Weak transcription	Brain Hippocampus Middle	brain
48	chr22:29488600-29489600	Weak transcription	Left Ventricle	heart
49	chr22:29488600-29489600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr22:29488600-29489600	Weak transcription	HepG2	liver

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