Variant report

Variant	rs2151107
Chromosome Location	chr9:103174717-103174718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:103162892..103165922-chr9:103171980..103175521,3	MCF-7	breast:
2	chr9:103171653..103179256-chr9:103186952..103193020,13	MCF-7	breast:
3	chr9:103169579..103171733-chr9:103173238..103174816,2	K562	blood:
4	chr9:103114138..103117790-chr9:103172786..103175922,6	MCF-7	breast:
5	chr9:103174411..103177226-chr9:103182335..103184349,2	K562	blood:
6	chr9:103169516..103171661-chr9:103172507..103175663,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136891	Chromatin interaction
ENSG00000066697	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1016176	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1016177	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17740576	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17813447	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17813663	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17813801	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17813854	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2026998	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35438121	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41274963	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4395949	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56179916	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56313595	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56720423	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57241635	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58030694	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58698990	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59668196	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61306839	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61386923	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72733393	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72733395	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72733397	0.90[EUR][1000 genomes]
rs73655529	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73655530	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73655531	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73655532	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73655533	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73655534	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73655535	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73655536	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73655537	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73655539	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73655540	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73655541	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73655542	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73655543	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73655544	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73655545	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73655546	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73655547	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73655549	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73655550	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73655551	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73655553	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73655554	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv825012	chr9:103152205-103256281	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2151107	C9orf30	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103173200-103174800	Active TSS	Rectal Smooth Muscle	rectum
2	chr9:103173400-103174800	Active TSS	Brain Angular Gyrus	brain
3	chr9:103173400-103174800	Active TSS	Brain Substantia Nigra	brain
4	chr9:103173600-103175400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:103173800-103174800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr9:103173800-103174800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr9:103173800-103174800	Active TSS	Left Ventricle	heart
8	chr9:103174200-103174800	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr9:103174400-103174800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr9:103174400-103174800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:103174400-103174800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr9:103174400-103174800	Flanking Active TSS	Fetal Brain Female	brain
13	chr9:103174600-103174800	Enhancers	Primary B cells from peripheral blood	blood
14	chr9:103174600-103174800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr9:103174600-103174800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr9:103174600-103174800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr9:103174600-103174800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr9:103174600-103174800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:103174600-103174800	Enhancers	Adipose Nuclei	Adipose
20	chr9:103174600-103174800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:103174600-103174800	Enhancers	Fetal Muscle Leg	muscle
22	chr9:103174600-103174800	Enhancers	Stomach Mucosa	stomach
23	chr9:103174600-103174800	Active TSS	Stomach Smooth Muscle	stomach
24	chr9:103174600-103174800	Enhancers	Hela-S3	cervix
25	chr9:103174600-103174800	Enhancers	HepG2	liver
26	chr9:103174600-103175000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:103174600-103175600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr9:103174600-103176400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:103174600-103176600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:103174600-103176800	Weak transcription	Placenta	Placenta
31	chr9:103174600-103177000	Weak transcription	Right Atrium	heart
32	chr9:103174600-103188800	Weak transcription	Esophagus	oesophagus

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