Variant report

Variant	rs5762987
Chromosome Location	chr22:29489480-29489481
allele	A/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: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2294242	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs34967120	0.83[ASN][1000 genomes]
rs5752866	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs5762986	0.83[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs5762996	0.90[CHB][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

No data

Chromatin state (count:77 , 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	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:29478800-29489600	Weak transcription	Dnd41	blood
7	chr22:29478800-29490200	Weak transcription	Thymus	Thymus
8	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
9	chr22:29480600-29489600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr22:29480800-29492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr22:29485800-29492200	Weak transcription	K562	blood
14	chr22:29486000-29489600	Weak transcription	Brain Angular Gyrus	brain
15	chr22:29486000-29489600	Weak transcription	Esophagus	oesophagus
16	chr22:29486000-29491000	Weak transcription	Colonic Mucosa	Colon
17	chr22:29486000-29492600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr22:29486200-29490800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:29486200-29491000	Weak transcription	Fetal Brain Female	brain
20	chr22:29486600-29494800	Weak transcription	NHEK	skin
21	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
22	chr22:29487200-29490200	Enhancers	Fetal Muscle Leg	muscle
23	chr22:29487400-29489600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr22:29487600-29489800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr22:29487600-29490200	Enhancers	Fetal Stomach	stomach
26	chr22:29487600-29490400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr22:29487600-29491000	Enhancers	Fetal Lung	lung
28	chr22:29487600-29491000	Enhancers	Ovary	ovary
29	chr22:29487800-29490400	Enhancers	Liver	Liver
30	chr22:29487800-29490400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr22:29488000-29489600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr22:29488000-29489600	Enhancers	Small Intestine	intestine
33	chr22:29488000-29490400	Enhancers	Colon Smooth Muscle	Colon
34	chr22:29488200-29490000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr22:29488400-29489800	Weak transcription	Brain Anterior Caudate	brain
36	chr22:29488400-29490000	Weak transcription	Fetal Thymus	thymus
37	chr22:29488400-29490200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr22:29488400-29492400	Weak transcription	Right Ventricle	heart
39	chr22:29488400-29521200	Weak transcription	Lung	lung
40	chr22:29488600-29489600	Weak transcription	Left Ventricle	heart
41	chr22:29488600-29489600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr22:29488600-29489600	Weak transcription	HepG2	liver
43	chr22:29488600-29494800	Weak transcription	Placenta	Placenta
44	chr22:29488800-29491000	Weak transcription	Gastric	stomach
45	chr22:29488800-29491000	Weak transcription	Right Atrium	heart
46	chr22:29488800-29492400	Weak transcription	Pancreas	Pancrea
47	chr22:29489000-29489800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr22:29489000-29490000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr22:29489000-29490000	Enhancers	Fetal Intestine Small	intestine
50	chr22:29489000-29490400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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