Variant report

Variant	rs73041648
Chromosome Location	chr2:189064122-189064123
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189060891..189062754-chr2:189063938..189066801,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10168173	1.00[EUR][1000 genomes]
rs10497688	1.00[EUR][1000 genomes]
rs13393870	1.00[EUR][1000 genomes]
rs13394334	1.00[EUR][1000 genomes]
rs13430185	1.00[EUR][1000 genomes]
rs13430412	1.00[EUR][1000 genomes]
rs16829836	1.00[EUR][1000 genomes]
rs16829866	1.00[EUR][1000 genomes]
rs16829915	1.00[EUR][1000 genomes]
rs16829922	1.00[EUR][1000 genomes]
rs56787383	1.00[EUR][1000 genomes]
rs58718952	1.00[EUR][1000 genomes]
rs58765845	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59058494	1.00[EUR][1000 genomes]
rs59329932	1.00[EUR][1000 genomes]
rs60483729	1.00[EUR][1000 genomes]
rs60885306	1.00[EUR][1000 genomes]
rs61163899	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6705443	1.00[EUR][1000 genomes]
rs6709650	1.00[EUR][1000 genomes]
rs6716922	1.00[EUR][1000 genomes]
rs6721812	1.00[EUR][1000 genomes]
rs6757707	1.00[EUR][1000 genomes]
rs73036471	1.00[EUR][1000 genomes]
rs73036479	1.00[EUR][1000 genomes]
rs73036496	1.00[EUR][1000 genomes]
rs73037651	1.00[EUR][1000 genomes]
rs73039667	1.00[EUR][1000 genomes]
rs73039680	1.00[EUR][1000 genomes]
rs73039697	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73039700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040411	1.00[EUR][1000 genomes]
rs73040428	1.00[EUR][1000 genomes]
rs73040439	1.00[EUR][1000 genomes]
rs73040442	1.00[EUR][1000 genomes]
rs73041610	1.00[EUR][1000 genomes]
rs73041636	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7577096	1.00[EUR][1000 genomes]
rs7586703	1.00[EUR][1000 genomes]
rs7592433	1.00[EUR][1000 genomes]
rs7592539	1.00[EUR][1000 genomes]
rs7596417	1.00[EUR][1000 genomes]
rs7597930	1.00[EUR][1000 genomes]
rs7598380	1.00[EUR][1000 genomes]
rs7599101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9653310	1.00[EUR][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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv875605	chr2:189017499-189080087	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189058600-189064400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:189061600-189064600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:189061600-189067400	Weak transcription	Ovary	ovary
4	chr2:189061800-189064400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:189061800-189064400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:189061800-189069200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:189062200-189064400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:189062200-189065000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:189063200-189064800	Enhancers	NH-A	brain
10	chr2:189063600-189064800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:189063600-189065000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:189063600-189065200	Enhancers	Osteobl	bone
13	chr2:189063600-189065800	Enhancers	HMEC	breast
14	chr2:189063800-189065800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:189064000-189064600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:189064000-189064800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:189064000-189064800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:189064000-189065200	Enhancers	HSMM	muscle
19	chr2:189064000-189065400	Enhancers	NHEK	skin

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