Variant report

Variant	rs1979186
Chromosome Location	chr2:173877524-173877525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173873426..173877615-chr2:173879611..173885929,8	MCF-7	breast:
2	chr2:173855341..173858207-chr2:173875304..173878807,3	MCF-7	breast:
3	chr2:173850484..173852151-chr2:173876423..173879303,2	K562	blood:
4	chr2:173870759..173874382-chr2:173875343..173878397,4	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1011345	0.93[ASN][1000 genomes]
rs11687902	0.97[ASN][1000 genomes]
rs11687990	0.97[ASN][1000 genomes]
rs11885983	0.88[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12616563	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12624093	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12693015	0.86[ASN][1000 genomes]
rs12693016	0.84[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12996130	0.85[ASN][1000 genomes]
rs13000260	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs13413796	0.84[CEU][hapmap];0.90[CHB][hapmap];0.85[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1446981	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs16861125	0.93[ASN][1000 genomes]
rs16861148	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs16861173	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17302307	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17374295	0.95[ASN][1000 genomes]
rs1823151	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2121483	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2166588	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2242079	0.90[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.98[ASN][1000 genomes]
rs2258918	0.85[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2305461	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2592944	0.85[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2602217	0.85[CEU][hapmap];0.81[CHB][hapmap];0.85[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2676521	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3754753	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3769225	1.00[ASN][1000 genomes]
rs3769226	1.00[ASN][1000 genomes]
rs3769227	0.97[ASN][1000 genomes]
rs3769228	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769229	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769231	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3769236	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3820840	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3820841	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3820843	0.97[ASN][1000 genomes]
rs3820844	0.97[ASN][1000 genomes]
rs4972523	0.97[ASN][1000 genomes]
rs4972525	0.84[CEU][hapmap]
rs66487735	0.97[ASN][1000 genomes]
rs6760256	0.84[CEU][hapmap]
rs718902	0.84[ASN][1000 genomes]
rs72896070	0.92[ASN][1000 genomes]
rs72909440	1.00[ASN][1000 genomes]
rs72909444	1.00[ASN][1000 genomes]
rs72909446	1.00[ASN][1000 genomes]
rs7585997	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7603772	0.90[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1979186	ATP5G3	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173835800-173886800	Weak transcription	Lung	lung
2	chr2:173856000-173885200	Weak transcription	Brain Anterior Caudate	brain
3	chr2:173856200-173882400	Weak transcription	Left Ventricle	heart
4	chr2:173856200-173892600	Weak transcription	Brain Angular Gyrus	brain
5	chr2:173860800-173877800	Weak transcription	Adipose Nuclei	Adipose
6	chr2:173861000-173888000	Weak transcription	Fetal Stomach	stomach
7	chr2:173862200-173881800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:173862200-173883600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:173867800-173880800	Weak transcription	Liver	Liver
10	chr2:173868000-173902000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:173868200-173878600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:173868600-173892200	Weak transcription	Fetal Intestine Large	intestine
13	chr2:173871000-173881200	Weak transcription	Ovary	ovary
14	chr2:173871000-173884400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr2:173871000-173886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:173871200-173881000	Weak transcription	Fetal Heart	heart
17	chr2:173876800-173878800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:173877000-173878600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr2:173877000-173878800	Weak transcription	Right Atrium	heart
20	chr2:173877200-173901600	Weak transcription	Gastric	stomach

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