Variant report

Variant	rs7818090
Chromosome Location	chr8:86091963-86091964
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86088356..86092364-chr8:86131123..86134666,8	MCF-7	breast:
2	chr8:86088150..86092119-chr8:86130217..86134794,5	K562	blood:
3	chr8:86016436..86019868-chr8:86087554..86092567,7	K562	blood:
4	chr8:86088862..86093405-chr8:86093868..86100908,10	K562	blood:
5	chr8:86089844..86092252-chr8:86098327..86100668,2	MCF-7	breast:
6	chr8:86088302..86092423-chr8:86099880..86105553,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185015	Chromatin interaction
ENSG00000133739	Chromatin interaction
ENSG00000176731	Chromatin interaction
ENSG00000133740	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10088120	0.87[EUR][1000 genomes]
rs10091577	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10091710	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10100442	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11261468	0.88[ASN][1000 genomes]
rs12926	0.84[EUR][1000 genomes]
rs13249364	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13269031	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2403082	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2403084	0.84[EUR][1000 genomes]
rs2403085	0.84[EUR][1000 genomes]
rs2403086	0.84[EUR][1000 genomes]
rs2403087	0.89[ASN][1000 genomes]
rs2403088	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2403089	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28621707	0.81[EUR][1000 genomes]
rs2896452	0.94[ASN][1000 genomes]
rs2896453	0.81[ASN][1000 genomes]
rs2896454	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3779899	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4150859	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4150862	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4150865	0.92[EUR][1000 genomes]
rs4150867	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4150868	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4150869	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4150884	0.92[EUR][1000 genomes]
rs4150893	0.84[EUR][1000 genomes]
rs4150897	0.84[EUR][1000 genomes]
rs4150942	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4740043	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62527168	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62527173	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6605609	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6605624	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6605625	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6986704	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6990256	0.88[ASN][1000 genomes]
rs7004765	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7008032	0.81[EUR][1000 genomes]
rs7010228	0.80[EUR][1000 genomes]
rs7015758	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72682904	0.90[ASN][1000 genomes]
rs7814435	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7823218	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7829050	0.87[EUR][1000 genomes]
rs7829144	0.88[ASN][1000 genomes]
rs7838900	0.94[ASN][1000 genomes]
rs7841142	0.89[ASN][1000 genomes]
rs7842013	0.87[AMR][1000 genomes];0.93[EUR][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
rs7818090	LRRCC1	cis	Esophagus Mucosa	GTEx
rs7818090	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL
rs7818090	LRRCC1	cis	Artery Tibial	GTEx
rs7818090	C8orf59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86090400-86092400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:86090600-86093400	Weak transcription	Ovary	ovary
3	chr8:86090800-86127800	Weak transcription	Aorta	Aorta
4	chr8:86091000-86095600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:86091000-86101800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:86091000-86103600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:86091000-86127800	Weak transcription	HSMMtube	muscle
8	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:86091200-86094600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:86091200-86125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:86091400-86094400	Weak transcription	Fetal Brain Male	brain
12	chr8:86091600-86092000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:86091600-86092200	Enhancers	Primary B cells from peripheral blood	blood
14	chr8:86091600-86092400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:86091600-86093200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:86091600-86093200	Weak transcription	Fetal Thymus	thymus
17	chr8:86091600-86094200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:86091600-86094200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:86091600-86094400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:86091600-86094600	Weak transcription	Colon Smooth Muscle	Colon
21	chr8:86091600-86095400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:86091600-86095400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:86091600-86095600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:86091600-86099400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr8:86091600-86100600	Weak transcription	Fetal Stomach	stomach
26	chr8:86091600-86101000	Weak transcription	Thymus	Thymus
27	chr8:86091600-86107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:86091600-86107800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:86091600-86110000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:86091600-86124200	Weak transcription	Primary T cells from cord blood	blood
31	chr8:86091600-86126000	Weak transcription	Hela-S3	cervix
32	chr8:86091800-86092000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:86091800-86092600	Enhancers	Primary B cells from cord blood	blood
34	chr8:86091800-86093000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:86091800-86093200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:86091800-86093200	Weak transcription	Fetal Intestine Small	intestine
37	chr8:86091800-86094000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:86091800-86094200	Weak transcription	Fetal Lung	lung
39	chr8:86091800-86095400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr8:86091800-86096000	Weak transcription	A549	lung
41	chr8:86091800-86096800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:86091800-86098000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:86091800-86099400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:86091800-86100400	Weak transcription	Fetal Heart	heart
45	chr8:86091800-86100600	Weak transcription	Dnd41	blood
46	chr8:86091800-86124200	Weak transcription	HMEC	breast

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