Variant report

Variant	rs1860121
Chromosome Location	chr17:67222811-67222812
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:67219582..67222237-chr17:67222647..67224467,2	MCF-7	breast:
2	chr17:67220676..67223689-chr17:67224007..67226701,3	K562	blood:
3	chr17:67221677..67223634-chr17:67225109..67226721,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154263	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs112914	0.81[AMR][1000 genomes]
rs11655507	0.81[ASN][1000 genomes]
rs12939436	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs471193	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs531586	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs534645	0.87[AMR][1000 genomes]
rs6501291	0.96[ASN][1000 genomes]
rs6501292	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6501313	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7222780	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs817121	0.93[AMR][1000 genomes]
rs817128	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9302893	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv457888	chr17:67149973-67226643	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv575931	chr17:67149973-67226643	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv516799	chr17:67210267-67231581	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
6	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67144000-67236000	Weak transcription	Psoas Muscle	Psoas
2	chr17:67173400-67230000	Weak transcription	Pancreas	Pancrea
3	chr17:67207600-67247800	Weak transcription	Left Ventricle	heart
4	chr17:67209800-67223200	Weak transcription	Fetal Muscle Leg	muscle
5	chr17:67213800-67230400	Weak transcription	Brain Angular Gyrus	brain
6	chr17:67215600-67239200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr17:67215600-67249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:67216800-67224800	Weak transcription	NHDF-Ad	bronchial
9	chr17:67218600-67223800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:67219800-67225600	Active TSS	Right Atrium	heart
11	chr17:67220000-67224400	Active TSS	Adipose Nuclei	Adipose
12	chr17:67220400-67223400	Weak transcription	GM12878-XiMat	blood
13	chr17:67220400-67223600	Weak transcription	Fetal Lung	lung
14	chr17:67220400-67231200	Weak transcription	Osteobl	bone
15	chr17:67220600-67223600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:67220600-67223800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:67220600-67226200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr17:67221000-67223400	Weak transcription	Primary T cells from cord blood	blood
19	chr17:67221600-67225200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:67221800-67225200	Active TSS	Ovary	ovary
21	chr17:67222200-67223200	Flanking Active TSS	Liver	Liver
22	chr17:67222400-67223000	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr17:67222400-67223600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:67222400-67224600	Active TSS	Stomach Smooth Muscle	stomach
25	chr17:67222600-67223000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr17:67222600-67223400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:67222600-67224400	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr17:67222600-67225000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:67222600-67225400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr17:67222800-67225400	Enhancers	Primary hematopoietic stem cells	blood

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