Variant report

Variant	rs7034154
Chromosome Location	chr9:103226268-103226269
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:103225675..103229353-chr9:103229898..103233058,3	K562	blood:

Extended variants
information (count: 149 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs1000477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1041565	0.97[ASN][1000 genomes]
rs10465118	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10465145	0.89[ASN][1000 genomes]
rs10465147	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs10465148	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10465149	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10512270	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10512271	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10819773	0.90[JPT][hapmap];0.81[YRI][hapmap]
rs10819774	0.83[CHB][hapmap];0.89[ASN][1000 genomes]
rs10819775	0.89[ASN][1000 genomes]
rs10819776	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10819779	0.98[ASN][1000 genomes]
rs10819781	1.00[ASN][1000 genomes]
rs10819782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10819785	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[ASN][1000 genomes]
rs10819786	0.97[ASN][1000 genomes]
rs10819787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10819788	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10819789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs10819790	0.83[ASN][1000 genomes]
rs10989078	1.00[JPT][hapmap]
rs10989081	0.91[JPT][hapmap]
rs10989082	1.00[JPT][hapmap];0.85[YRI][hapmap]
rs10989085	0.81[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10989090	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10989091	0.97[ASN][1000 genomes]
rs10989092	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10989093	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10989094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10989095	0.98[ASN][1000 genomes]
rs10989097	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10989099	1.00[ASN][1000 genomes]
rs10989103	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10989105	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10989107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10989108	0.97[ASN][1000 genomes]
rs10989111	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10989112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10989113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10989114	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10989115	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10989120	1.00[CHB][hapmap];0.83[JPT][hapmap];0.97[ASN][1000 genomes]
rs10989121	0.89[ASN][1000 genomes]
rs10989123	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10989124	0.84[ASN][1000 genomes]
rs10989127	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10989130	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10989131	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10989134	0.83[ASN][1000 genomes]
rs10989135	0.83[ASN][1000 genomes]
rs10989142	0.83[ASN][1000 genomes]
rs10989143	0.83[ASN][1000 genomes]
rs10989144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10989145	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10989146	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10989147	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10989150	0.94[CHB][hapmap];0.84[JPT][hapmap]
rs10989151	0.82[ASN][1000 genomes]
rs10989152	0.88[CHB][hapmap]
rs10989153	0.94[CHB][hapmap]
rs10989154	0.94[CHB][hapmap]
rs10989156	0.94[CHB][hapmap]
rs10989161	0.84[JPT][hapmap]
rs10989162	0.84[JPT][hapmap]
rs10989163	0.82[JPT][hapmap]
rs10989164	0.82[JPT][hapmap]
rs10989165	0.84[JPT][hapmap]
rs10989167	0.82[JPT][hapmap]
rs10989169	0.82[JPT][hapmap]
rs10989170	0.82[JPT][hapmap]
rs11793014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[ASN][1000 genomes]
rs12004257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12005378	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12056981	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12057047	0.97[ASN][1000 genomes]
rs12235981	0.94[CHB][hapmap]
rs12236071	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12236952	0.97[ASN][1000 genomes]
rs12236970	0.94[CHB][hapmap]
rs12237166	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12237481	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12238560	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12682741	1.00[ASN][1000 genomes]
rs12683122	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12683548	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12683889	0.82[JPT][hapmap]
rs12684438	1.00[JPT][hapmap]
rs12684454	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13286805	0.97[ASN][1000 genomes]
rs13292589	0.97[ASN][1000 genomes]
rs1332598	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16919136	0.97[ASN][1000 genomes]
rs16919174	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16919204	0.83[JPT][hapmap]
rs16919211	0.84[JPT][hapmap]
rs17813663	0.80[EUR][1000 genomes]
rs17813801	0.82[EUR][1000 genomes]
rs17813854	0.82[EUR][1000 genomes]
rs1930237	0.84[ASN][1000 genomes]
rs1930245	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1930246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1931140	0.94[CHB][hapmap]
rs2026423	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2069236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2151106	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2183989	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2183990	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[ASN][1000 genomes]
rs2183991	0.83[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[ASN][1000 genomes]
rs2274881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2274882	0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2780958	0.82[YRI][hapmap]
rs34471402	0.97[ASN][1000 genomes]
rs35438121	0.80[EUR][1000 genomes]
rs41274963	0.80[EUR][1000 genomes]
rs56012200	0.83[ASN][1000 genomes]
rs56020062	0.83[ASN][1000 genomes]
rs56050588	0.85[ASN][1000 genomes]
rs56122790	0.89[ASN][1000 genomes]
rs56170030	0.97[ASN][1000 genomes]
rs58698990	0.82[EUR][1000 genomes]
rs59565932	0.84[ASN][1000 genomes]
rs59611728	0.96[ASN][1000 genomes]
rs61306839	0.80[EUR][1000 genomes]
rs7021028	0.94[CHB][hapmap]
rs7024666	1.00[ASN][1000 genomes]
rs7028822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[ASN][1000 genomes]
rs7029001	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7031884	0.82[JPT][hapmap];0.82[YRI][hapmap]
rs7041933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042669	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7046659	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7049241	0.97[ASN][1000 genomes]
rs72735107	0.89[ASN][1000 genomes]
rs72735110	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72735119	0.98[ASN][1000 genomes]
rs72735122	0.98[ASN][1000 genomes]
rs72735140	0.97[ASN][1000 genomes]
rs72735148	0.89[ASN][1000 genomes]
rs73655549	0.80[EUR][1000 genomes]
rs73655550	0.80[EUR][1000 genomes]
rs73655551	0.82[EUR][1000 genomes]
rs73655553	0.82[EUR][1000 genomes]
rs73655554	0.82[EUR][1000 genomes]
rs7869933	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	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
3	nsv614955	chr9:103181596-103261227	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7034154	C9orf30	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103191800-103228000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:103196200-103226400	Weak transcription	Psoas Muscle	Psoas
3	chr9:103207000-103227400	Weak transcription	Brain Anterior Caudate	brain
4	chr9:103208800-103227200	Weak transcription	Brain Angular Gyrus	brain
5	chr9:103208800-103227800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr9:103209600-103227400	Weak transcription	Brain Substantia Nigra	brain
7	chr9:103215600-103227400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr9:103215600-103231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:103215800-103227400	Weak transcription	Brain Hippocampus Middle	brain
10	chr9:103216600-103228400	Weak transcription	Adipose Nuclei	Adipose
11	chr9:103216600-103235000	Weak transcription	Aorta	Aorta
12	chr9:103216800-103227400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:103216800-103227600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr9:103216800-103227600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:103216800-103228600	Weak transcription	Left Ventricle	heart
16	chr9:103216800-103228600	Weak transcription	Pancreas	Pancrea
17	chr9:103216800-103235000	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:103217000-103234800	Weak transcription	Fetal Brain Female	brain
19	chr9:103217200-103234800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:103217400-103227600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:103218200-103227400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:103218200-103235000	Weak transcription	NHLF	lung
23	chr9:103218400-103235000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:103220200-103234800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:103225400-103231400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:103225600-103231200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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