Variant report

Variant	rs5749156
Chromosome Location	chr22:31113664-31113665
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31089448..31091772-chr22:31110969..31113819,2	MCF-7	breast:
2	chr22:31108562..31111393-chr22:31113342..31115524,2	K562	blood:

Variant related genes	Relation type
ENSG00000184792	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1040422	0.95[AMR][1000 genomes]
rs11913875	0.93[ASN][1000 genomes]
rs12483846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12484930	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13053993	0.83[ASN][1000 genomes]
rs136337	0.80[ASN][1000 genomes]
rs136339	0.82[ASN][1000 genomes]
rs136343	0.82[ASN][1000 genomes]
rs136344	0.82[ASN][1000 genomes]
rs136345	0.82[ASN][1000 genomes]
rs136348	0.82[ASN][1000 genomes]
rs136351	0.84[ASN][1000 genomes]
rs136354	0.84[ASN][1000 genomes]
rs136355	0.84[ASN][1000 genomes]
rs136356	0.81[ASN][1000 genomes]
rs136379	0.86[ASN][1000 genomes]
rs136380	0.94[ASN][1000 genomes]
rs136383	0.96[ASN][1000 genomes]
rs136388	0.89[ASN][1000 genomes]
rs4820897	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs4820899	0.86[ASN][1000 genomes]
rs55765123	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5749152	0.86[EUR][1000 genomes]
rs5749157	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749161	0.84[ASN][1000 genomes]
rs5753270	0.84[EUR][1000 genomes]
rs5753271	0.84[EUR][1000 genomes]
rs5753272	0.84[EUR][1000 genomes]
rs5753273	0.84[EUR][1000 genomes]
rs5753274	0.84[EUR][1000 genomes]
rs5753277	0.86[EUR][1000 genomes]
rs5753279	0.91[EUR][1000 genomes]
rs5753280	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs5753281	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5753284	0.83[ASN][1000 genomes]
rs5753285	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753287	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5753290	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753292	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753294	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753297	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5753298	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5753299	0.81[ASN][1000 genomes]
rs5753300	0.84[ASN][1000 genomes]
rs58467547	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs5997737	0.89[ASN][1000 genomes]
rs61537428	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62235878	0.85[EUR][1000 genomes]
rs62235882	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62235883	0.84[AMR][1000 genomes]
rs62235892	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7292017	0.93[ASN][1000 genomes]
rs73170830	0.83[EUR][1000 genomes]
rs8141331	0.91[AMR][1000 genomes]
rs8184976	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs909705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs926340	0.84[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	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31112600-31113800	Enhancers	NHDF-Ad	bronchial
2	chr22:31112600-31114600	Enhancers	HMEC	breast
3	chr22:31112600-31117000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr22:31112800-31113800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:31112800-31114200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr22:31112800-31114200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:31112800-31114200	Enhancers	Brain Anterior Caudate	brain
8	chr22:31112800-31114200	Enhancers	HUVEC	blood vessel
9	chr22:31112800-31114200	Enhancers	NHEK	skin
10	chr22:31112800-31114400	Enhancers	HSMMtube	muscle
11	chr22:31112800-31114400	Enhancers	NH-A	brain
12	chr22:31112800-31114600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:31112800-31114600	Enhancers	Osteobl	bone
14	chr22:31112800-31114800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:31112800-31114800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr22:31112800-31115200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:31112800-31115400	Enhancers	HSMM	muscle
18	chr22:31112800-31115600	Enhancers	Brain Hippocampus Middle	brain
19	chr22:31113000-31114400	Enhancers	Brain Substantia Nigra	brain
20	chr22:31113200-31114400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr22:31113200-31114400	Enhancers	Brain Angular Gyrus	brain
22	chr22:31113200-31114400	Enhancers	NHLF	lung
23	chr22:31113200-31115200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr22:31113200-31115400	Enhancers	Brain Cingulate Gyrus	brain
25	chr22:31113200-31115400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr22:31113400-31113800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:31113400-31114000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:31113400-31114000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:31113400-31114200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr22:31113400-31114200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr22:31113400-31114200	Enhancers	A549	lung
32	chr22:31113400-31114600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:31113600-31114000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr22:31113600-31114200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:31113600-31114200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr22:31113600-31114200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:31113600-31114200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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