Variant report

Variant	rs60341298
Chromosome Location	chr2:190007378-190007379
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	chr2:190007040..190008928-chr2:190150245..190153733,35	MCF-7	breast:
2	chr2:190006464..190008527-chr2:190011142..190013874,2	MCF-7	breast:

Extended variants
information (count: 167 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs10153543	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10153951	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10166669	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10166763	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10168736	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10170085	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10171824	0.88[AMR][1000 genomes]
rs10172337	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10174122	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10174725	1.00[ASN][1000 genomes]
rs10174952	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10177339	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10177917	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10178743	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10179002	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10179972	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10181872	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10182328	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10182531	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10182637	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184389	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185003	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10185694	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10186436	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10187808	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187975	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10188565	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10189469	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10191409	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10191847	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10193984	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10194834	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10194934	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10196977	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10198744	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201372	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10201984	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10203719	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10204767	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10205775	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10206562	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10208917	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10209758	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10221749	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221861	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439311	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10439312	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469647	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10469738	0.92[EUR][1000 genomes]
rs10469740	0.84[EUR][1000 genomes]
rs10931412	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10931413	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12328504	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12328515	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12328914	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13383723	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13387876	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13387877	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13388039	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388779	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13391841	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13392896	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13394718	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13396640	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13400624	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13402678	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13407353	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13407566	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13409397	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418443	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419269	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13419984	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13420832	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13421370	1.00[ASN][1000 genomes]
rs13423429	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13423654	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425539	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13425989	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426851	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13427092	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13427686	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13432036	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13432963	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28368169	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414300	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28433254	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28567040	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28679474	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35852101	1.00[ASN][1000 genomes]
rs55808493	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55819631	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063417	1.00[ASN][1000 genomes]
rs56900526	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56996340	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57047644	1.00[ASN][1000 genomes]
rs57187765	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57215654	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57398906	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57458325	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57525746	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57598703	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58258584	1.00[ASN][1000 genomes]
rs58396131	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59397955	1.00[ASN][1000 genomes]
rs59506401	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59826931	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59872509	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60056080	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60708586	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60863981	1.00[ASN][1000 genomes]
rs61154892	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61625679	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717036	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6746050	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7355598	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73978603	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73978605	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978809	1.00[ASN][1000 genomes]
rs73978810	1.00[ASN][1000 genomes]
rs73978811	1.00[ASN][1000 genomes]
rs73978812	1.00[ASN][1000 genomes]
rs73978820	1.00[ASN][1000 genomes]
rs73978832	1.00[ASN][1000 genomes]
rs73978835	1.00[ASN][1000 genomes]
rs73978855	1.00[ASN][1000 genomes]
rs73978885	1.00[ASN][1000 genomes]
rs73980135	1.00[ASN][1000 genomes]
rs73980165	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980173	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980174	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980175	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980177	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980180	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980182	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980183	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980187	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980188	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980190	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980191	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980192	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980193	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980194	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980195	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980196	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980197	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980198	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980199	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980201	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73980202	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982004	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982007	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982032	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982033	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982034	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73982037	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7558500	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7561643	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7562592	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7566271	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569974	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7584984	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7599676	1.00[ASN][1000 genomes]
rs7609327	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9288164	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9808058	0.83[AMR][1000 genomes];1.00[ASN][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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875613	chr2:189999011-190324685	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189968600-190012000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:189974800-190007600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:189981400-190014800	Weak transcription	Fetal Stomach	stomach
4	chr2:189984000-190016800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:189986000-190008800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:189993800-190007400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:189993800-190017000	Weak transcription	Ovary	ovary
8	chr2:189994200-190010600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:189995400-190009000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:189996000-190008800	Weak transcription	NHLF	lung
11	chr2:189997000-190008000	Weak transcription	HSMMtube	muscle
12	chr2:189997000-190008600	Weak transcription	NH-A	brain
13	chr2:189999000-190009400	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:190000400-190013600	Weak transcription	Left Ventricle	heart
15	chr2:190001000-190008000	Weak transcription	Fetal Lung	lung
16	chr2:190002400-190008400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr2:190002600-190007800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:190002600-190007800	Weak transcription	NHDF-Ad	bronchial
19	chr2:190002600-190009000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:190002800-190008800	Weak transcription	Osteobl	bone
21	chr2:190003000-190008800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr2:190003600-190014600	Weak transcription	Colon Smooth Muscle	Colon
23	chr2:190004000-190007400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:190004400-190007800	Weak transcription	HSMM	muscle
25	chr2:190004400-190008000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:190004800-190007400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:190006600-190007400	Weak transcription	A549	lung
28	chr2:190006600-190008400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:190006600-190011800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:190007000-190007800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:190007200-190008200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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