Variant report

Variant	rs7838900
Chromosome Location	chr8:86098249-86098250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:86088862..86093405-chr8:86093868..86100908,10	K562	blood:

Variant related genes	Relation type
ENSG00000254208	Chromatin interaction
ENSG00000133740	Chromatin interaction
ENSG00000260493	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11261468	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13259399	0.80[AMR][1000 genomes]
rs2278459	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2403082	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2403083	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2403087	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2403088	0.91[ASN][1000 genomes]
rs2403089	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2896452	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2896453	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808538	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4150862	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4150867	0.81[AMR][1000 genomes]
rs4150869	0.81[AMR][1000 genomes]
rs4150880	0.83[EUR][1000 genomes]
rs4150942	0.82[ASN][1000 genomes]
rs4740043	0.92[ASN][1000 genomes]
rs4740044	0.80[AMR][1000 genomes]
rs62527173	0.81[AMR][1000 genomes]
rs6605609	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6605624	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6605625	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67573812	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6986704	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6987641	0.80[AMR][1000 genomes]
rs6990256	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6990449	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6990452	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7007304	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72682904	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7814435	0.81[ASN][1000 genomes]
rs7818090	0.94[ASN][1000 genomes]
rs7829144	0.88[ASN][1000 genomes]
rs7837275	0.80[AMR][1000 genomes]
rs7841142	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7842013	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv3396459	chr8:86098050-86100248	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7838900	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs7838900	LRRCC1	cis	Esophagus Mucosa	GTEx
rs7838900	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86090800-86127800	Weak transcription	Aorta	Aorta
2	chr8:86091000-86101800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:86091000-86103600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:86091000-86127800	Weak transcription	HSMMtube	muscle
5	chr8:86091000-86132000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:86091200-86125200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:86091600-86099400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr8:86091600-86100600	Weak transcription	Fetal Stomach	stomach
9	chr8:86091600-86101000	Weak transcription	Thymus	Thymus
10	chr8:86091600-86107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:86091600-86107800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:86091600-86110000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:86091600-86124200	Weak transcription	Primary T cells from cord blood	blood
14	chr8:86091600-86126000	Weak transcription	Hela-S3	cervix
15	chr8:86091800-86099400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr8:86091800-86100400	Weak transcription	Fetal Heart	heart
17	chr8:86091800-86100600	Weak transcription	Dnd41	blood
18	chr8:86091800-86124200	Weak transcription	HMEC	breast
19	chr8:86093600-86100600	Weak transcription	Fetal Thymus	thymus
20	chr8:86096200-86099400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:86096200-86108400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:86096200-86121400	Weak transcription	Fetal Lung	lung
23	chr8:86096400-86100200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:86096400-86102000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:86096400-86107800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:86096400-86121400	Weak transcription	A549	lung
27	chr8:86096600-86101600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:86096600-86120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr8:86096800-86099000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:86096800-86099200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:86096800-86100000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:86096800-86100600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:86096800-86109600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr8:86096800-86113000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:86097000-86102400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr8:86097600-86099000	Weak transcription	Primary B cells from cord blood	blood
37	chr8:86097800-86098600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:86098000-86101200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:86098000-86101600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:86098000-86112800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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