Variant report

Variant	rs4150884
Chromosome Location	chr8:86101779-86101780
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86101538..86103443-chr8:86113731..86116210,2	K562	blood:
2	chr8:86093537..86096341-chr8:86100869..86102481,2	MCF-7	breast:
3	chr8:86101042..86103330-chr8:86131561..86134209,2	K562	blood:
4	chr8:86088496..86090570-chr8:86100776..86103506,2	MCF-7	breast:
5	chr8:86088302..86092423-chr8:86099880..86105553,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133740	Chromatin interaction
ENSG00000254208	Chromatin interaction
ENSG00000176731	Chromatin interaction
ENSG00000260493	Chromatin interaction
ENSG00000185015	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10088120	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10091577	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10091710	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10100442	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12549421	0.83[ASN][1000 genomes]
rs12926	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13249364	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13269031	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13269739	0.87[ASN][1000 genomes]
rs16913681	0.83[EUR][1000 genomes]
rs2403082	0.85[EUR][1000 genomes]
rs2403083	0.86[ASN][1000 genomes]
rs2403084	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2403085	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2403086	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2403088	0.90[EUR][1000 genomes]
rs2403089	0.84[EUR][1000 genomes]
rs28377260	0.83[EUR][1000 genomes]
rs28621707	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2896452	0.81[ASN][1000 genomes]
rs2896454	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34103685	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34527380	0.88[ASN][1000 genomes]
rs3779899	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3779901	0.83[EUR][1000 genomes]
rs4150859	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4150862	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4150865	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4150867	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150868	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4150869	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150893	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4150897	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4150909	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4150942	0.88[EUR][1000 genomes]
rs4150944	0.83[ASN][1000 genomes]
rs4150962	0.83[EUR][1000 genomes]
rs4150964	0.83[EUR][1000 genomes]
rs4150974	0.83[EUR][1000 genomes]
rs4150977	0.83[EUR][1000 genomes]
rs4740043	0.90[EUR][1000 genomes]
rs62527168	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62527173	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6605609	0.94[EUR][1000 genomes]
rs6605624	0.81[EUR][1000 genomes]
rs6605625	0.84[EUR][1000 genomes]
rs6986704	0.92[EUR][1000 genomes]
rs7004765	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7008032	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7010228	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7015758	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7818090	0.92[EUR][1000 genomes]
rs7823218	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7829050	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7842013	0.99[EUR][1000 genomes];0.97[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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4150884	LRRCC1	Cis_1M	lymphoblastoid	RTeQTL
rs4150884	C8orf59	Cis_1M	lymphoblastoid	RTeQTL
rs4150884	LRRCC1	cis	Esophagus Mucosa	GTEx
rs4150884	LRRCC1	cis	Artery Tibial	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

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	chr8:86091600-86107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:86091600-86107800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:86091600-86110000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:86091600-86124200	Weak transcription	Primary T cells from cord blood	blood
11	chr8:86091600-86126000	Weak transcription	Hela-S3	cervix
12	chr8:86091800-86124200	Weak transcription	HMEC	breast
13	chr8:86096200-86108400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:86096200-86121400	Weak transcription	Fetal Lung	lung
15	chr8:86096400-86102000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:86096400-86107800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:86096400-86121400	Weak transcription	A549	lung
18	chr8:86096600-86120600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:86096800-86109600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:86096800-86113000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:86097000-86102400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:86098000-86112800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:86099400-86102200	Weak transcription	Fetal Muscle Leg	muscle
24	chr8:86100000-86102600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:86100400-86103000	Flanking Active TSS	Primary B cells from cord blood	blood
26	chr8:86100400-86104000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:86100400-86121400	Weak transcription	Fetal Intestine Large	intestine
28	chr8:86100600-86102600	Strong transcription	Fetal Stomach	stomach
29	chr8:86100600-86102600	Strong transcription	Dnd41	blood
30	chr8:86100600-86103200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:86100600-86103200	Enhancers	Fetal Thymus	thymus
32	chr8:86100800-86101800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:86101000-86103800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:86101000-86104600	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:86101000-86122600	Weak transcription	Fetal Intestine Small	intestine
36	chr8:86101000-86124600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:86101000-86127800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:86101200-86101800	Strong transcription	Brain Germinal Matrix	brain
39	chr8:86101200-86101800	Active TSS	GM12878-XiMat	blood
40	chr8:86101200-86102800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:86101200-86103200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:86101200-86103200	Weak transcription	Fetal Brain Female	brain
43	chr8:86101200-86104000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:86101200-86105800	Weak transcription	Pancreas	Pancrea
45	chr8:86101200-86127800	Weak transcription	Spleen	Spleen
46	chr8:86101200-86131000	Weak transcription	HepG2	liver
47	chr8:86101400-86102600	Genic enhancers	Thymus	Thymus
48	chr8:86101400-86104000	Weak transcription	Fetal Heart	heart
49	chr8:86101400-86106000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr8:86101600-86101800	Enhancers	Right Ventricle	heart

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