Variant report

Variant	rs60569724
Chromosome Location	chr8:90783465-90783466
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:90783067..90785641-chr8:90833540..90835924,2	MCF-7	breast:
2	chr8:90783108..90785174-chr8:90996536..90998062,2	MCF-7	breast:
3	chr8:90776996..90779563-chr8:90782705..90784439,2	K562	blood:
4	chr8:90782135..90784385-chr8:90789224..90791497,2	K562	blood:
5	chr8:90769818..90771620-chr8:90780999..90783477,2	K562	blood:

Variant related genes	Relation type
ENSG00000104320	Chromatin interaction
ENSG00000251136	Chromatin interaction
ENSG00000104312	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10087807	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10097279	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10100184	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10102596	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10113478	0.82[ASN][1000 genomes]
rs10504881	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900429	1.00[EUR][1000 genomes]
rs16900627	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16900650	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16900684	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1978129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158131	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs218924	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs218926	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs218927	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs218930	0.93[EUR][1000 genomes]
rs218931	0.93[EUR][1000 genomes]
rs218933	0.93[EUR][1000 genomes]
rs218937	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs218939	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28565967	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28657795	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28823689	0.82[ASN][1000 genomes]
rs56017098	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6981112	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73291423	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73293110	0.90[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73694475	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73694484	0.82[ASN][1000 genomes]
rs7814056	1.00[EUR][1000 genomes]
rs7844627	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297727	0.90[AFR][1000 genomes];0.89[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	nsv891180	chr8:90697810-90802491	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv933502	chr8:90702392-91049100	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
3	nsv934114	chr8:90720182-90999106	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv891181	chr8:90737258-90819998	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60569724	RP11-37B2.1	cis	Artery Tibial	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90771000-90797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:90771600-90803800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:90771800-90784400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr8:90771800-90805000	Weak transcription	Esophagus	oesophagus
5	chr8:90772000-90784600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr8:90772000-90785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:90772000-90785400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:90772000-90796800	Weak transcription	Lung	lung
9	chr8:90772000-90797000	Weak transcription	Ovary	ovary
10	chr8:90772200-90783600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr8:90772200-90783800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:90772200-90784600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:90772200-90785200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:90772200-90785600	Weak transcription	Fetal Muscle Leg	muscle
15	chr8:90772200-90802000	Weak transcription	Colonic Mucosa	Colon
16	chr8:90772200-90802400	Weak transcription	Spleen	Spleen
17	chr8:90772200-90805200	Weak transcription	Fetal Brain Male	brain
18	chr8:90772200-90807200	Weak transcription	Pancreas	Pancrea
19	chr8:90772200-90809400	Weak transcription	Small Intestine	intestine
20	chr8:90772400-90784000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr8:90772400-90784600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:90772400-90784800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:90772400-90784800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr8:90772400-90785200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:90772400-90787200	Weak transcription	Fetal Stomach	stomach
26	chr8:90772400-90790600	Weak transcription	NHEK	skin
27	chr8:90772400-90802200	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:90772600-90784400	Weak transcription	Left Ventricle	heart
29	chr8:90773000-90784400	Weak transcription	HSMMtube	muscle
30	chr8:90773000-90785200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:90773000-90785200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:90773000-90806800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:90773000-90812400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:90773200-90799000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:90773600-90784400	Weak transcription	HMEC	breast
36	chr8:90773800-90784800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:90774000-90783600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr8:90774200-90784200	Weak transcription	HepG2	liver
39	chr8:90774200-90785000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:90774200-90803600	Weak transcription	Fetal Heart	heart
41	chr8:90774400-90793600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:90775800-90807200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:90776400-90793800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:90776400-90799800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:90776600-90784800	Weak transcription	Brain Anterior Caudate	brain
46	chr8:90776600-90785200	Weak transcription	Brain Substantia Nigra	brain
47	chr8:90776600-90785400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:90776800-90784600	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:90777000-90786200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:90777200-90787200	Strong transcription	Primary monocytes fromperipheralblood	blood

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