Variant report

Variant	rs17045879
Chromosome Location	chr2:54647455-54647456
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	chr2:54629042..54631678-chr2:54646319..54649301,2	K562	blood:
2	chr2:54629237..54631678-chr2:54647068..54649301,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10197675	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10200277	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10200373	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13410583	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13417725	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13422533	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17045872	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17045876	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17045894	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5027315	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55820245	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55988726	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57310962	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs58805636	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59072058	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72911198	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72911200	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7574815	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7575035	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7587404	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7589057	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1011690	chr2:54255361-54700843	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr2:54639400-54657200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:54641200-54647800	Enhancers	HUVEC	blood vessel
3	chr2:54641800-54647600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:54644000-54648000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:54644000-54648000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:54644000-54649200	Weak transcription	Spleen	Spleen
7	chr2:54646600-54647600	Enhancers	Fetal Heart	heart
8	chr2:54646600-54648000	Enhancers	Adipose Nuclei	Adipose
9	chr2:54646600-54648000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:54646600-54648000	Enhancers	Fetal Muscle Leg	muscle
11	chr2:54646600-54648000	Enhancers	Fetal Stomach	stomach
12	chr2:54646600-54648200	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:54646600-54648200	Enhancers	NHLF	lung
14	chr2:54646600-54648800	Enhancers	Fetal Lung	lung
15	chr2:54646800-54647800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:54646800-54648200	Enhancers	Brain Angular Gyrus	brain
17	chr2:54647000-54647600	Flanking Active TSS	NHDF-Ad	bronchial
18	chr2:54647000-54647800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:54647000-54647800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:54647200-54647800	Enhancers	Stomach Smooth Muscle	stomach
21	chr2:54647200-54648000	Enhancers	Right Atrium	heart
22	chr2:54647200-54648400	Enhancers	Right Ventricle	heart
23	chr2:54647200-54648800	Enhancers	Ovary	ovary
24	chr2:54647200-54650200	Weak transcription	Fetal Brain Male	brain
25	chr2:54647400-54647800	Weak transcription	Left Ventricle	heart
26	chr2:54647400-54647800	Weak transcription	Lung	lung
27	chr2:54647400-54648400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:54647400-54648400	Enhancers	HSMMtube	muscle
29	chr2:54647400-54649400	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:54647400-54650400	Weak transcription	Brain Hippocampus Middle	brain
31	chr2:54647400-54654200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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