Variant report

Variant	rs35686688
Chromosome Location	chr1:192951521-192951522
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:192951052..192955546-chr1:192961394..192964923,5	K562	blood:
2	chr1:192950006..192952576-chr1:192954084..192958225,4	K562	blood:
3	chr1:192951305..192952923-chr1:193027488..193029378,2	K562	blood:
4	chr1:192945670..192948268-chr1:192951433..192953649,3	K562	blood:
5	chr1:192950083..192952754-chr1:192953612..192956916,3	K562	blood:

Variant related genes	Relation type
ENSG00000116750	Chromatin interaction
ENSG00000234473	Chromatin interaction
ENSG00000116747	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10754036	0.86[EUR][1000 genomes]
rs10921296	0.89[AMR][1000 genomes]
rs10921298	0.89[AMR][1000 genomes]
rs10921300	0.95[EUR][1000 genomes]
rs11507869	0.85[EUR][1000 genomes]
rs12117621	0.95[EUR][1000 genomes]
rs12118267	0.89[EUR][1000 genomes]
rs12124274	0.83[EUR][1000 genomes]
rs12125252	0.95[EUR][1000 genomes]
rs12132131	0.86[EUR][1000 genomes]
rs12133295	0.81[EUR][1000 genomes]
rs12138298	0.86[EUR][1000 genomes]
rs12143913	0.95[EUR][1000 genomes]
rs1339591	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1339593	0.89[AMR][1000 genomes]
rs1615218	0.89[AMR][1000 genomes]
rs17525308	0.83[EUR][1000 genomes]
rs1769054	0.89[AMR][1000 genomes]
rs2066216	0.80[AMR][1000 genomes]
rs2486496	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6428143	0.89[AMR][1000 genomes]
rs6680068	0.84[EUR][1000 genomes]
rs6700102	0.82[AMR][1000 genomes]
rs6700111	0.82[AMR][1000 genomes]
rs710140	0.80[AMR][1000 genomes]
rs710141	0.87[AMR][1000 genomes]
rs72738564	0.86[EUR][1000 genomes]
rs72738565	0.86[EUR][1000 genomes]
rs72738572	0.95[EUR][1000 genomes]
rs72738574	0.95[EUR][1000 genomes]
rs7415619	0.87[EUR][1000 genomes]
rs7512163	0.89[AMR][1000 genomes]
rs7512241	0.89[AMR][1000 genomes]
rs7513985	0.89[AMR][1000 genomes]
rs7547423	0.89[AMR][1000 genomes]
rs842792	0.80[AMR][1000 genomes]
rs842793	0.80[AMR][1000 genomes]
rs842794	0.80[AMR][1000 genomes]
rs842798	0.87[AMR][1000 genomes]
rs842802	0.87[AMR][1000 genomes]
rs842803	0.87[AMR][1000 genomes]
rs842805	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs842812	0.87[AMR][1000 genomes]
rs842815	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs844528	0.87[AMR][1000 genomes]
rs9427824	0.89[AMR][1000 genomes]
rs9427825	0.89[AMR][1000 genomes]
rs946557	0.80[AMR][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv999499	chr1:192909529-192998421	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535252	chr1:192909529-192998421	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192937000-192963400	Weak transcription	Aorta	Aorta
2	chr1:192938000-192972800	Weak transcription	Psoas Muscle	Psoas
3	chr1:192944000-192961800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:192944000-192962800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:192944000-192963000	Weak transcription	Pancreas	Pancrea
6	chr1:192944200-192963200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:192944400-192962800	Weak transcription	Osteobl	bone
8	chr1:192947000-192968800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:192947600-192952600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:192948000-192966800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:192948800-192952400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:192949200-192963200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:192950000-192957200	Weak transcription	Primary T cells from cord blood	blood
14	chr1:192950200-192951600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:192950400-192952000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:192950400-192952600	Weak transcription	K562	blood
17	chr1:192950400-192962800	Weak transcription	Fetal Muscle Leg	muscle
18	chr1:192950600-192952200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:192950600-192962600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:192950800-192954800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:192951400-192951600	Enhancers	Sigmoid Colon	Sigmoid Colon

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