Variant report

Variant	rs62527173
Chromosome Location	chr8:86094102-86094103
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:86094094-86094125	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:86085188..86087448-chr8:86092785..86094662,2	K562	blood:
2	chr8:86093537..86096341-chr8:86100869..86102481,2	MCF-7	breast:
3	chr8:86088862..86093405-chr8:86093868..86100908,10	K562	blood:

Variant related genes	Relation type
ENSG00000254208	TF binding region
ENSG00000260493	TF binding region
ENSG00000260493	Chromatin interaction
ENSG00000133740	Chromatin interaction
ENSG00000254208	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10088120	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10091577	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10091710	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10100442	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12549421	0.86[ASN][1000 genomes]
rs12926	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13249364	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13269031	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13269739	0.90[ASN][1000 genomes]
rs16913681	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2403082	0.85[EUR][1000 genomes]
rs2403083	0.83[ASN][1000 genomes]
rs2403084	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2403085	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2403086	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2403088	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2403089	0.84[EUR][1000 genomes]
rs28377260	0.82[EUR][1000 genomes]
rs28621707	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2896454	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34103685	0.92[ASN][1000 genomes]
rs34527380	0.91[ASN][1000 genomes]
rs3779899	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3779901	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4150859	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4150862	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4150865	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4150867	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4150868	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4150869	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4150884	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4150893	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4150897	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4150909	0.82[ASN][1000 genomes]
rs4150942	0.87[EUR][1000 genomes]
rs4150944	0.80[ASN][1000 genomes]
rs4150962	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4150964	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4150974	0.82[EUR][1000 genomes]
rs4150977	0.82[EUR][1000 genomes]
rs4740043	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62527168	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6605609	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6605624	0.81[EUR][1000 genomes]
rs6605625	0.84[EUR][1000 genomes]
rs6986704	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7004765	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7008032	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7010228	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7015758	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814435	0.86[AMR][1000 genomes]
rs7818090	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7823218	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7829050	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7838900	0.81[AMR][1000 genomes]
rs7842013	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv1799571	chr8:86064130-86105803	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs62527173	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs62527173	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL
rs62527173	LRRCC1	cis	Artery Tibial	GTEx
rs62527173	LRRCC1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86090800-86127800	Weak transcription	Aorta	Aorta
2	chr8:86091000-86095600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:86091000-86101800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:86091000-86103600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:86091000-86127800	Weak transcription	HSMMtube	muscle
6	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:86091200-86094600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:86091200-86125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:86091400-86094400	Weak transcription	Fetal Brain Male	brain
10	chr8:86091600-86094200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr8:86091600-86094200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:86091600-86094400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:86091600-86094600	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:86091600-86095400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:86091600-86095400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr8:86091600-86095600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:86091600-86099400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:86091600-86100600	Weak transcription	Fetal Stomach	stomach
19	chr8:86091600-86101000	Weak transcription	Thymus	Thymus
20	chr8:86091600-86107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:86091600-86107800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:86091600-86110000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:86091600-86124200	Weak transcription	Primary T cells from cord blood	blood
24	chr8:86091600-86126000	Weak transcription	Hela-S3	cervix
25	chr8:86091800-86094200	Weak transcription	Fetal Lung	lung
26	chr8:86091800-86095400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr8:86091800-86096000	Weak transcription	A549	lung
28	chr8:86091800-86096800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:86091800-86098000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:86091800-86099400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:86091800-86100400	Weak transcription	Fetal Heart	heart
32	chr8:86091800-86100600	Weak transcription	Dnd41	blood
33	chr8:86091800-86124200	Weak transcription	HMEC	breast
34	chr8:86092000-86096000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:86092200-86095400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:86092400-86096200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:86092400-86096800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:86093000-86096400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:86093200-86094400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:86093200-86095800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr8:86093600-86100600	Weak transcription	Fetal Thymus	thymus
42	chr8:86093800-86094600	Weak transcription	Fetal Intestine Small	intestine
43	chr8:86094000-86096200	Genic enhancers	Primary B cells from cord blood	blood
44	chr8:86094000-86096800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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