Variant report

Variant	rs7286634
Chromosome Location	chr22:29489138-29489139
allele	A/C
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: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1022482	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10483154	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12160337	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12628129	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12628787	0.88[EUR][1000 genomes]
rs12628791	0.88[EUR][1000 genomes]
rs16987014	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16987051	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987052	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987079	0.88[EUR][1000 genomes]
rs16987083	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16987084	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28817997	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35829194	0.91[EUR][1000 genomes]
rs5752869	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6519771	0.88[EUR][1000 genomes]
rs6519772	0.88[EUR][1000 genomes]
rs7286554	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7287223	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289560	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8135301	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8142545	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29475000-29489200	Weak transcription	Fetal Intestine Large	intestine
2	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
4	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
6	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:29478800-29489600	Weak transcription	Dnd41	blood
9	chr22:29478800-29490200	Weak transcription	Thymus	Thymus
10	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
11	chr22:29479600-29489200	Weak transcription	Fetal Kidney	kidney
12	chr22:29480600-29489600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr22:29480800-29492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr22:29485800-29492200	Weak transcription	K562	blood
17	chr22:29486000-29489600	Weak transcription	Brain Angular Gyrus	brain
18	chr22:29486000-29489600	Weak transcription	Esophagus	oesophagus
19	chr22:29486000-29491000	Weak transcription	Colonic Mucosa	Colon
20	chr22:29486000-29492600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr22:29486200-29490800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:29486200-29491000	Weak transcription	Fetal Brain Female	brain
23	chr22:29486400-29489400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:29486600-29494800	Weak transcription	NHEK	skin
25	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
26	chr22:29487000-29489400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr22:29487200-29490200	Enhancers	Fetal Muscle Leg	muscle
28	chr22:29487400-29489200	Enhancers	NHDF-Ad	bronchial
29	chr22:29487400-29489600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:29487600-29489400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr22:29487600-29489800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr22:29487600-29490200	Enhancers	Fetal Stomach	stomach
33	chr22:29487600-29490400	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr22:29487600-29491000	Enhancers	Fetal Lung	lung
35	chr22:29487600-29491000	Enhancers	Ovary	ovary
36	chr22:29487800-29490400	Enhancers	Liver	Liver
37	chr22:29487800-29490400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:29488000-29489400	Enhancers	Duodenum Mucosa	Duodenum
39	chr22:29488000-29489600	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr22:29488000-29489600	Enhancers	Small Intestine	intestine
41	chr22:29488000-29490400	Enhancers	Colon Smooth Muscle	Colon
42	chr22:29488200-29489400	Enhancers	Stomach Mucosa	stomach
43	chr22:29488200-29490000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr22:29488400-29489400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr22:29488400-29489800	Weak transcription	Brain Anterior Caudate	brain
46	chr22:29488400-29490000	Weak transcription	Fetal Thymus	thymus
47	chr22:29488400-29490200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr22:29488400-29492400	Weak transcription	Right Ventricle	heart
49	chr22:29488400-29521200	Weak transcription	Lung	lung
50	chr22:29488600-29489400	Weak transcription	Brain Hippocampus Middle	brain

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