Variant report

Variant	rs59624704
Chromosome Location	chr2:48008687-48008688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10490303	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10495948	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17036952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17036971	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17037021	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17037040	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17037062	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2134055	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2881863	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3136242	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3136274	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3136286	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4381823	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56682209	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56881113	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58057481	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58552166	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60118201	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60303023	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72876814	0.98[EUR][1000 genomes]
rs7560678	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873999	chr2:47916074-48019485	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47983400-48009600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:47991000-48009600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:47993000-48009400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:47995600-48009000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:47995600-48009400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:47999000-48009400	Weak transcription	HMEC	breast
7	chr2:47999000-48009400	Weak transcription	HUVEC	blood vessel
8	chr2:48002000-48009400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr2:48003800-48009400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:48004000-48009400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:48004800-48009000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:48004800-48009200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:48005200-48009000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:48005200-48009000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:48005200-48009400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:48005400-48009000	Weak transcription	Fetal Intestine Small	intestine
17	chr2:48005600-48009000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:48005600-48009200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:48005600-48009400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr2:48005600-48009400	Weak transcription	Ovary	ovary
21	chr2:48005600-48009400	Weak transcription	Pancreas	Pancrea
22	chr2:48005600-48009400	Weak transcription	K562	blood
23	chr2:48005600-48009600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:48006000-48009200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:48007200-48009200	Weak transcription	Fetal Brain Male	brain
26	chr2:48008400-48011400	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:48008600-48008800	Active TSS	HepG2	liver
28	chr2:48008600-48009200	Enhancers	Placenta	Placenta
29	chr2:48008600-48009600	Enhancers	Small Intestine	intestine

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