Variant report

Variant	rs60128317
Chromosome Location	chr8:60607279-60607280
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:60568709..60570705-chr8:60604991..60607479,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10504297	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12543325	1.00[EUR][1000 genomes]
rs12546911	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12549759	1.00[EUR][1000 genomes]
rs12682289	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1473033	0.80[ASN][1000 genomes]
rs16925086	1.00[EUR][1000 genomes]
rs16925125	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16925150	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16925189	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16925205	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs16925211	0.80[ASN][1000 genomes]
rs4738783	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57039053	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58415565	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59572343	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60161009	0.83[ASN][1000 genomes]
rs60259845	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60471102	0.80[ASN][1000 genomes]
rs61373903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009572	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7017228	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7017533	0.83[EUR][1000 genomes]
rs73247828	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73247831	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73247877	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73249744	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73680624	1.00[EUR][1000 genomes]
rs73680627	1.00[EUR][1000 genomes]
rs73680629	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680641	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73680644	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73680665	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7820215	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7826590	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7833284	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7834153	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7841860	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7842035	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs907209	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs907210	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030564	chr8:60445016-60752655	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv539630	chr8:60445016-60752655	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60606200-60608400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:60606200-60608600	Enhancers	HSMMtube	muscle
3	chr8:60606200-60610000	Enhancers	Fetal Stomach	stomach
4	chr8:60606400-60607400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:60606400-60607800	Enhancers	Rectal Smooth Muscle	rectum
6	chr8:60606400-60608800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:60606600-60607800	Enhancers	Stomach Smooth Muscle	stomach
8	chr8:60606600-60608200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:60606600-60608400	Enhancers	NH-A	brain
10	chr8:60606600-60609000	Enhancers	Colon Smooth Muscle	Colon
11	chr8:60606600-60611000	Enhancers	Hela-S3	cervix
12	chr8:60606800-60608200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:60606800-60608200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:60606800-60608200	Enhancers	Fetal Heart	heart
15	chr8:60606800-60610800	Enhancers	NHDF-Ad	bronchial
16	chr8:60607000-60607400	Enhancers	HUVEC	blood vessel
17	chr8:60607000-60607400	Flanking Active TSS	Osteobl	bone
18	chr8:60607000-60607600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr8:60607000-60607800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:60607000-60608000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:60607000-60608000	Enhancers	NHEK	skin
22	chr8:60607000-60608000	Enhancers	NHLF	lung
23	chr8:60607000-60608600	Enhancers	Fetal Lung	lung
24	chr8:60607000-60608600	Enhancers	HMEC	breast
25	chr8:60607200-60607400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:60607200-60607600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:60607200-60608000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:60607200-60608000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr8:60607200-60608400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:60607200-60609200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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