Variant report

Variant	rs72680644
Chromosome Location	chr8:99197260-99197261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99193362..99195766-chr8:99196470..99198946,2	MCF-7	breast:
2	chr8:99189856..99193042-chr8:99195160..99197940,6	MCF-7	breast:
3	chr8:99197086..99199611-chr8:99306001..99308233,3	MCF-7	breast:
4	chr8:99188577..99190258-chr8:99195594..99198169,2	K562	blood:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10093356	0.92[EUR][1000 genomes]
rs10093623	0.93[EUR][1000 genomes]
rs10093678	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10093856	0.93[EUR][1000 genomes]
rs10095790	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10095887	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10100633	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10108460	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1109159	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11987536	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12677283	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12680361	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12680980	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1542289	0.94[EUR][1000 genomes]
rs16896763	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16896768	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16896802	0.94[EUR][1000 genomes]
rs2331809	0.94[EUR][1000 genomes]
rs28485842	0.94[EUR][1000 genomes]
rs2877460	0.89[ASN][1000 genomes]
rs2877495	0.94[EUR][1000 genomes]
rs3779721	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734388	0.85[ASN][1000 genomes]
rs4734389	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4734390	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4735535	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4735539	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55908268	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56906975	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57644890	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs60414868	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6468620	0.93[EUR][1000 genomes]
rs7009145	0.94[EUR][1000 genomes]
rs896417	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891216	chr8:99153160-99209248	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv14716	chr8:99169690-99199971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99197600	Weak transcription	Esophagus	oesophagus
2	chr8:99191600-99203000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
4	chr8:99192200-99201000	Weak transcription	Fetal Heart	heart
5	chr8:99192200-99205800	Weak transcription	Fetal Intestine Small	intestine
6	chr8:99192200-99210600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:99192200-99214400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:99192600-99197400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr8:99192800-99210400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:99193400-99206400	Weak transcription	Pancreas	Pancrea
11	chr8:99194400-99198000	Weak transcription	Lung	lung
12	chr8:99194800-99216600	Weak transcription	Colonic Mucosa	Colon
13	chr8:99195600-99197800	Enhancers	Fetal Stomach	stomach
14	chr8:99195800-99197800	Enhancers	Fetal Muscle Trunk	muscle
15	chr8:99195800-99198600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:99196200-99197400	Enhancers	Aorta	Aorta
17	chr8:99196200-99198000	Enhancers	Osteobl	bone
18	chr8:99196200-99198200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:99196200-99198200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:99196200-99198200	Enhancers	NHDF-Ad	bronchial
21	chr8:99196200-99198400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:99196400-99198200	Enhancers	Right Ventricle	heart
23	chr8:99196400-99204800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:99196600-99197400	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr8:99196600-99197800	Enhancers	Right Atrium	heart
26	chr8:99196600-99197800	Enhancers	NHLF	lung
27	chr8:99196600-99198200	Enhancers	Left Ventricle	heart
28	chr8:99196600-99198400	Enhancers	Ovary	ovary
29	chr8:99197000-99197600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:99197000-99198200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:99197000-99204800	Weak transcription	Fetal Intestine Large	intestine
32	chr8:99197000-99205000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:99197000-99209200	Weak transcription	HSMMtube	muscle
34	chr8:99197000-99210400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr8:99197000-99219000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:99197200-99198600	Weak transcription	Adipose Nuclei	Adipose

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