Variant report

Variant	rs10169190
Chromosome Location	chr2:114519841-114519842
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114512582..114515674-chr2:114516372..114520568,3	MCF-7	breast:
2	chr2:114519834..114522706-chr2:114524263..114527074,3	K562	blood:
3	chr2:114496162..114498041-chr2:114518174..114520618,2	K562	blood:
4	chr2:114512297..114513973-chr2:114517803..114519961,2	MCF-7	breast:
5	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270019	Chromatin interaction
ENSG00000115084	Chromatin interaction
ENSG00000115091	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10197009	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199515	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208651	0.93[ASN][1000 genomes]
rs1062074	0.87[EUR][1000 genomes]
rs11123202	0.93[ASN][1000 genomes]
rs11123203	0.93[ASN][1000 genomes]
rs11677168	0.93[ASN][1000 genomes]
rs12329244	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711781	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12711787	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12986781	0.86[ASN][1000 genomes]
rs13003858	0.86[ASN][1000 genomes]
rs13025042	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028979	0.93[ASN][1000 genomes]
rs13389017	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13393247	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395272	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401587	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13407986	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13408264	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409879	0.84[EUR][1000 genomes]
rs13410586	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13416738	0.89[EUR][1000 genomes]
rs13417896	0.93[ASN][1000 genomes]
rs13424899	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428433	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17048299	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17048506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17633451	0.89[EUR][1000 genomes]
rs28392566	0.87[EUR][1000 genomes]
rs34026450	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34451679	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34480436	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35049717	0.86[EUR][1000 genomes]
rs35073956	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35255260	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62158991	0.81[ASN][1000 genomes]
rs62170066	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6722177	0.87[ASN][1000 genomes]
rs7600251	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs998151	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009509	chr2:114432965-114557306	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv535896	chr2:114432965-114557306	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv2883	chr2:114507889-114535199	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10169190	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114515200-114520400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:114515200-114520400	Weak transcription	Left Ventricle	heart
3	chr2:114515400-114520000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:114515600-114521600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:114517400-114521000	Enhancers	NHDF-Ad	bronchial
6	chr2:114517600-114520200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr2:114517600-114520200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:114517600-114520400	Enhancers	HSMMtube	muscle
9	chr2:114517600-114521200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:114517800-114520800	Enhancers	HSMM	muscle
11	chr2:114517800-114520800	Enhancers	HUVEC	blood vessel
12	chr2:114517800-114520800	Enhancers	NHLF	lung
13	chr2:114517800-114521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:114518000-114520800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:114519200-114520000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:114519200-114520400	Weak transcription	Psoas Muscle	Psoas
17	chr2:114519200-114520800	Enhancers	NH-A	brain
18	chr2:114519400-114520400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:114519400-114520400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:114519400-114520600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr2:114519600-114520600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:114519600-114520600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:114519600-114521000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:114519800-114520200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:114519800-114520200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:114519800-114520200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:114519800-114520400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:114519800-114520400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:114519800-114520600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:114519800-114520600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:114519800-114520600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:114519800-114520600	Flanking Active TSS	Osteobl	bone
33	chr2:114519800-114520800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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