Variant report

Variant	rs2268561
Chromosome Location	chr1:168330577-168330578
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	chr1:168324913..168327529-chr1:168329698..168331377,2	K562	blood:
2	chr1:168328202..168331069-chr1:168335120..168337354,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10465552	0.81[ASN][1000 genomes]
rs16860403	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs16860434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1886004	1.00[ASN][1000 genomes]
rs2076061	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs2223293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235299	0.80[ASN][1000 genomes]
rs2268563	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2268565	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2268566	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2284758	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2284759	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2284760	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2284762	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57956428	1.00[ASN][1000 genomes]
rs59227453	0.84[ASN][1000 genomes]
rs6427125	0.80[ASN][1000 genomes]
rs6672853	0.81[ASN][1000 genomes]
rs7551330	0.80[ASN][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	nsv831825	chr1:168179175-168353062	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002007	chr1:168179463-168375973	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv872527	chr1:168327555-168375973	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168325400-168330600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:168329200-168330600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:168329200-168331200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:168329200-168331400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:168329200-168331600	Enhancers	Fetal Heart	heart
6	chr1:168329200-168332200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:168329400-168330600	Enhancers	Fetal Intestine Large	intestine
8	chr1:168329400-168330800	Enhancers	Colon Smooth Muscle	Colon
9	chr1:168329400-168331200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:168329400-168331200	Enhancers	Fetal Lung	lung
11	chr1:168329400-168333200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:168329400-168333200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:168329400-168333800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:168329400-168334600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:168329600-168330800	Enhancers	Fetal Intestine Small	intestine
16	chr1:168329600-168331800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr1:168329600-168331800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:168329600-168333600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:168329600-168334000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr1:168329800-168330600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:168329800-168330600	Weak transcription	Right Atrium	heart
22	chr1:168330000-168331200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:168330200-168330800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:168330200-168332000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:168330200-168333600	Weak transcription	HepG2	liver

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