Variant report

Variant	rs60087888
Chromosome Location	chr8:127837337-127837338
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:127836927..127839136-chr8:127848377..127851052,2	K562	blood:
2	chr8:127834592..127842945-chr8:128745185..128752445,14	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction
ENSG00000249375	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10216375	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13270320	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13279644	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16901732	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16901733	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59903817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983330	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6983660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984346	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6984351	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6989873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6990128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6992587	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6994585	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7003659	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7003931	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003948	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[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	nsv891438	chr8:127670339-127845702	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv1819408	chr8:127835876-127898165	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv1851585	chr8:127836077-127838244	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1846092	chr8:127836077-127838825	Active TSS Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1848524	chr8:127836277-127838744	Active TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv397060	chr8:127836884-127837419	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:127833600-127839800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:127836600-127837400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr8:127836600-127837400	Active TSS	Colon Smooth Muscle	Colon
4	chr8:127836600-127837400	Enhancers	Dnd41	blood
5	chr8:127836600-127837400	Flanking Active TSS	Hela-S3	cervix
6	chr8:127836800-127837400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:127836800-127837400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr8:127836800-127837400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:127836800-127837400	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr8:127836800-127837400	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr8:127836800-127837400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr8:127836800-127837400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:127836800-127837400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:127836800-127837400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:127836800-127837400	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:127836800-127837400	Active TSS	Primary T cells from cord blood	blood
17	chr8:127836800-127837400	Enhancers	Primary T cells fromperipheralblood	blood
18	chr8:127836800-127837400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr8:127836800-127837400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:127836800-127837400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:127836800-127837400	Active TSS	Aorta	Aorta
22	chr8:127836800-127837400	Active TSS	Brain Anterior Caudate	brain
23	chr8:127836800-127837400	Active TSS	Brain Cingulate Gyrus	brain
24	chr8:127836800-127837400	Active TSS	Brain Hippocampus Middle	brain
25	chr8:127836800-127837400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr8:127836800-127837400	Active TSS	Fetal Intestine Large	intestine
27	chr8:127836800-127837400	Flanking Active TSS	Fetal Lung	lung
28	chr8:127836800-127837400	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr8:127836800-127837400	Active TSS	Rectal Smooth Muscle	rectum
30	chr8:127836800-127837400	Active TSS	Right Ventricle	heart
31	chr8:127836800-127837400	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr8:127836800-127837400	Active TSS	Stomach Smooth Muscle	stomach
33	chr8:127836800-127837400	Flanking Active TSS	HMEC	breast
34	chr8:127836800-127837400	Flanking Active TSS	NHEK	skin
35	chr8:127836800-127837600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:127836800-127837600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr8:127836800-127837600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr8:127836800-127837600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:127836800-127837600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr8:127836800-127837600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr8:127836800-127837600	Active TSS	Brain Substantia Nigra	brain
42	chr8:127836800-127837600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr8:127836800-127837600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr8:127836800-127837600	Active TSS	Right Atrium	heart
45	chr8:127836800-127837600	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr8:127836800-127837600	Flanking Active TSS	HUVEC	blood vessel
47	chr8:127836800-127837600	Active TSS	NHDF-Ad	bronchial
48	chr8:127837000-127837400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr8:127837000-127837400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:127837000-127837400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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