Variant report

Variant	rs6427127
Chromosome Location	chr1:168329752-168329753
allele	C/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: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10489210	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10800356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10918873	0.92[ASN][1000 genomes]
rs12034832	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12123087	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128782	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12136596	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12137679	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12403490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12409703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12566982	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1569467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16860447	0.89[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1977060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2268556	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2268557	0.89[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2268559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2900726	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4656583	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6670176	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6697421	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7532903	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7555108	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs760685	0.88[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];0.96[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:29 , 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	chr1:168329200-168330400	Enhancers	Rectal Smooth Muscle	rectum
3	chr1:168329200-168330600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:168329200-168331200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:168329200-168331400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:168329200-168331600	Enhancers	Fetal Heart	heart
7	chr1:168329200-168332200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:168329400-168329800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:168329400-168329800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:168329400-168330200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:168329400-168330200	Enhancers	HepG2	liver
12	chr1:168329400-168330400	Enhancers	Adipose Nuclei	Adipose
13	chr1:168329400-168330600	Enhancers	Fetal Intestine Large	intestine
14	chr1:168329400-168330800	Enhancers	Colon Smooth Muscle	Colon
15	chr1:168329400-168331200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:168329400-168331200	Enhancers	Fetal Lung	lung
17	chr1:168329400-168333200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:168329400-168333200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr1:168329400-168333800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:168329400-168334600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:168329600-168329800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:168329600-168329800	Enhancers	Right Atrium	heart
23	chr1:168329600-168330000	Enhancers	Stomach Mucosa	stomach
24	chr1:168329600-168330200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr1:168329600-168330800	Enhancers	Fetal Intestine Small	intestine
26	chr1:168329600-168331800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:168329600-168331800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:168329600-168333600	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:168329600-168334000	Enhancers	Primary T cells fromperipheralblood	blood

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