Variant report

Variant	rs2192012
Chromosome Location	chr2:72433660-72433661
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	chr2:72432812..72434707-chr2:72436307..72438652,2	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1002415	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171231	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490039	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10490040	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13339845	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389007	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007906	1.00[ASN][1000 genomes]
rs17007927	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007929	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007933	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007934	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007937	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55813510	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55994075	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152907	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57013742	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58032693	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58173605	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58339219	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59269913	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61391258	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61450122	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147574	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147580	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147581	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147586	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147587	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147588	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147590	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147598	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147600	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147601	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147622	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147623	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147624	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147625	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147627	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147630	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147631	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147637	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62147740	1.00[ASN][1000 genomes]
rs62150087	1.00[ASN][1000 genomes]
rs62150096	1.00[ASN][1000 genomes]
rs62150097	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150118	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150119	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150120	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150123	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546745	0.88[CEU][hapmap]
rs6546747	0.88[CEU][hapmap]
rs6705261	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705347	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6707549	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748698	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910329	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910330	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72910350	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583202	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs7596302	0.87[CEU][hapmap];0.81[TSI][hapmap]

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	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2192012	IRX3	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72426800-72437600	Weak transcription	NH-A	brain
2	chr2:72431400-72433800	Enhancers	Brain Hippocampus Middle	brain
3	chr2:72432200-72433800	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:72432800-72437600	Weak transcription	Colonic Mucosa	Colon
5	chr2:72432800-72437600	Weak transcription	Esophagus	oesophagus
6	chr2:72432800-72437600	Weak transcription	Gastric	stomach
7	chr2:72432800-72437800	Weak transcription	Osteobl	bone
8	chr2:72432800-72438400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:72432800-72438400	Weak transcription	NHDF-Ad	bronchial
10	chr2:72432800-72441600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:72432800-72456600	Weak transcription	Psoas Muscle	Psoas
12	chr2:72433000-72441600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:72433000-72460600	Weak transcription	Pancreas	Pancrea
14	chr2:72433200-72436600	Weak transcription	A549	lung
15	chr2:72433200-72437600	Weak transcription	Stomach Mucosa	stomach
16	chr2:72433200-72437800	Weak transcription	Ovary	ovary
17	chr2:72433200-72438600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:72433200-72440200	Weak transcription	Left Ventricle	heart
19	chr2:72433200-72442200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:72433200-72450000	Weak transcription	Brain Angular Gyrus	brain
21	chr2:72433200-72450000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:72433200-72466000	Weak transcription	Right Ventricle	heart
23	chr2:72433200-72468600	Weak transcription	Right Atrium	heart
24	chr2:72433400-72437400	Weak transcription	Fetal Heart	heart
25	chr2:72433400-72437600	Weak transcription	Fetal Intestine Small	intestine
26	chr2:72433400-72437800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr2:72433400-72450200	Weak transcription	Brain Anterior Caudate	brain
28	chr2:72433600-72437600	Weak transcription	Fetal Intestine Large	intestine
29	chr2:72433600-72437800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:72433600-72437800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr2:72433600-72439000	Weak transcription	Small Intestine	intestine
32	chr2:72433600-72442000	Weak transcription	Fetal Stomach	stomach

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