Variant report

Variant	rs73064221
Chromosome Location	chr2:210073881-210073882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs56658288	1.00[AMR][1000 genomes]
rs73056330	1.00[AMR][1000 genomes]
rs73056335	1.00[AMR][1000 genomes]
rs73060287	1.00[AMR][1000 genomes]
rs73060288	1.00[AMR][1000 genomes]
rs73062103	1.00[AMR][1000 genomes]
rs73062108	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062118	1.00[AMR][1000 genomes]
rs73062183	1.00[AMR][1000 genomes]
rs73062184	1.00[AMR][1000 genomes]
rs73062186	1.00[AMR][1000 genomes]
rs73062187	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062190	1.00[AMR][1000 genomes]
rs73062191	1.00[AMR][1000 genomes]
rs73062194	1.00[AMR][1000 genomes]
rs73062195	1.00[AMR][1000 genomes]
rs73062200	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73062201	1.00[AMR][1000 genomes]
rs73064203	1.00[AMR][1000 genomes]
rs73064208	1.00[AMR][1000 genomes]
rs73064210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73064215	1.00[AMR][1000 genomes]
rs73064219	1.00[AMR][1000 genomes]
rs73066235	1.00[AMR][1000 genomes]
rs73066247	1.00[AMR][1000 genomes]
rs73070298	1.00[AMR][1000 genomes]
rs73071826	1.00[AMR][1000 genomes]
rs73071829	1.00[AMR][1000 genomes]
rs73071830	1.00[AMR][1000 genomes]
rs73071840	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv460059	chr2:210058383-210215272	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv584308	chr2:210058383-210215272	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006506	chr2:210063871-210212039	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv536134	chr2:210063871-210212039	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210072000-210075000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:210072400-210074800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:210072600-210074200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr2:210073000-210074000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:210073000-210074000	Active TSS	Primary hematopoietic stem cells	blood
6	chr2:210073000-210074000	Active TSS	Muscle Satellite Cultured Cells	--
7	chr2:210073000-210074000	Active TSS	Thymus	Thymus
8	chr2:210073000-210074000	Active TSS	HUVEC	blood vessel
9	chr2:210073000-210074000	Active TSS	NHDF-Ad	bronchial
10	chr2:210073000-210074200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:210073000-210074200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:210073000-210074200	Active TSS	Brain Hippocampus Middle	brain
13	chr2:210073000-210074200	Active TSS	Ovary	ovary
14	chr2:210073000-210074200	Active TSS	Psoas Muscle	Psoas
15	chr2:210073000-210074200	Active TSS	Right Ventricle	heart
16	chr2:210073000-210074200	Active TSS	HSMM	muscle
17	chr2:210073000-210074200	Active TSS	Monocytes-CD14+_RO01746	blood
18	chr2:210073000-210074400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr2:210073000-210074600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr2:210073000-210074600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:210073200-210074000	Active TSS	Liver	Liver
22	chr2:210073200-210074200	Active TSS	Primary monocytes fromperipheralblood	blood
23	chr2:210073200-210074200	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr2:210073200-210074200	Active TSS	Stomach Smooth Muscle	stomach
25	chr2:210073200-210074400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:210073200-210074400	Active TSS	Brain Germinal Matrix	brain
27	chr2:210073400-210074200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:210073400-210074200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:210073400-210074200	Active TSS	Fetal Muscle Trunk	muscle
30	chr2:210073600-210074000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:210073600-210074000	Enhancers	Pancreas	Pancrea
32	chr2:210073600-210074000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr2:210073600-210074200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr2:210073600-210074800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:210073800-210074200	Active TSS	Fetal Brain Female	brain
36	chr2:210073800-210074200	Flanking Active TSS	Placenta	Placenta

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