Variant report

Variant	rs66507952
Chromosome Location	chr8:121072626-121072627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120883686..120886465-chr8:121071792..121074526,2	MCF-7	breast:
2	chr8:120992487..120993376-chr8:121072550..121073500,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155792	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10090001	0.80[EUR][1000 genomes]
rs10101620	0.80[EUR][1000 genomes]
rs10101943	0.80[EUR][1000 genomes]
rs10505376	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808506	0.98[ASN][1000 genomes]
rs10955948	0.81[ASN][1000 genomes]
rs11780912	0.84[ASN][1000 genomes]
rs11780985	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12114445	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12542895	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12543907	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12545676	0.88[ASN][1000 genomes]
rs12548273	0.84[ASN][1000 genomes]
rs1519813	0.83[EUR][1000 genomes]
rs16893478	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16893517	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17226296	0.98[ASN][1000 genomes]
rs2292946	0.80[EUR][1000 genomes]
rs2875928	0.80[EUR][1000 genomes]
rs2875931	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871828	0.82[EUR][1000 genomes]
rs57868486	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60717250	0.88[ASN][1000 genomes]
rs60754245	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469894	0.80[EUR][1000 genomes]
rs6469895	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469897	0.82[EUR][1000 genomes]
rs66490854	0.83[EUR][1000 genomes]
rs66614869	0.84[ASN][1000 genomes]
rs6980708	0.83[EUR][1000 genomes]
rs6981402	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6986231	0.87[ASN][1000 genomes]
rs6998730	0.81[EUR][1000 genomes]
rs7004815	0.81[EUR][1000 genomes]
rs7005228	0.80[EUR][1000 genomes]
rs7007998	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7013298	0.80[EUR][1000 genomes]
rs7016816	0.83[EUR][1000 genomes]
rs72675741	0.98[ASN][1000 genomes]
rs73315941	0.84[ASN][1000 genomes]
rs7817016	0.83[EUR][1000 genomes]
rs7821947	0.83[EUR][1000 genomes]
rs7822662	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7822927	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7829116	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7833073	0.80[EUR][1000 genomes]
rs7836087	0.84[EUR][1000 genomes]
rs7841230	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7841621	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7843503	0.88[ASN][1000 genomes]
rs955293	0.82[EUR][1000 genomes]
rs960887	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs66507952	RP11-760H22.2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121049200-121072800	Weak transcription	Fetal Lung	lung
2	chr8:121049200-121072800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:121053600-121072800	Weak transcription	Brain Angular Gyrus	brain
4	chr8:121053600-121072800	Weak transcription	Brain Substantia Nigra	brain
5	chr8:121053600-121072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:121053800-121072800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:121059400-121077800	Weak transcription	Fetal Stomach	stomach
8	chr8:121060600-121085000	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:121060800-121072800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr8:121061000-121072800	Weak transcription	Fetal Kidney	kidney
11	chr8:121062400-121073000	Weak transcription	Fetal Intestine Large	intestine
12	chr8:121063000-121072800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:121063000-121073000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:121064200-121074800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:121064400-121072800	Weak transcription	Liver	Liver
16	chr8:121064400-121077200	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:121064400-121077600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:121064600-121072800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:121064600-121077200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:121065800-121073000	Weak transcription	Fetal Intestine Small	intestine
21	chr8:121066200-121072800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:121066400-121074800	Weak transcription	Gastric	stomach
23	chr8:121069600-121077400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:121070600-121072800	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:121070800-121072800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:121070800-121082200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr8:121071000-121072800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:121071200-121074000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr8:121072600-121073200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr8:121072600-121073400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:121072600-121073400	Enhancers	HMEC	breast
32	chr8:121072600-121073600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:121072600-121073600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr8:121072600-121073600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:121072600-121073600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:121072600-121073600	Enhancers	NHEK	skin
37	chr8:121072600-121074200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:121072600-121074400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr8:121072600-121077200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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