Variant report

Variant	rs61028529
Chromosome Location	chr1:174787899-174787900
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:174787266..174788950-chr1:174846455..174848064,2	K562	blood:
2	chr1:174787877..174789729-chr1:174792923..174795229,2	K562	blood:
3	chr1:174787124..174790078-chr1:174796659..174798420,2	K562	blood:

Variant related genes	Relation type
ENSG00000152061	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs3753562	0.91[AFR][1000 genomes]
rs41498747	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs4565668	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56864802	0.83[EUR][1000 genomes]
rs57053120	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57243929	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57648142	0.83[EUR][1000 genomes]
rs58762254	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59190079	0.89[EUR][1000 genomes]
rs59354288	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59436654	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60240702	0.83[EUR][1000 genomes]
rs60665754	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60723087	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60865584	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60885521	0.89[EUR][1000 genomes]
rs61329817	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6673649	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6692753	0.83[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6695956	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6700434	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6703536	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7543502	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014637	chr1:174265631-174826765	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535208	chr1:174265631-174826765	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv548198	chr1:174731596-174800872	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1824383	chr1:174764839-174801748	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1844306	chr1:174764839-174801748	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	esv1819206	chr1:174764839-174802731	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv1844208	chr1:174764839-174818547	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1847553	chr1:174764839-174818547	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1800291	chr1:174782523-174789611	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv1820274	chr1:174782523-174802731	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174770000-174794200	Weak transcription	Fetal Thymus	thymus
2	chr1:174770200-174788200	Weak transcription	Primary T cells from cord blood	blood
3	chr1:174772200-174796600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:174777600-174799800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:174782000-174800800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:174782200-174794800	Weak transcription	Fetal Intestine Small	intestine
7	chr1:174782200-174813000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:174782600-174799200	Weak transcription	Liver	Liver
9	chr1:174783600-174789200	Enhancers	NHEK	skin
10	chr1:174783800-174789000	Enhancers	HMEC	breast
11	chr1:174784400-174788000	Weak transcription	Right Atrium	heart
12	chr1:174784400-174789200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:174784400-174797200	Weak transcription	Esophagus	oesophagus
14	chr1:174784800-174806600	Weak transcription	HSMMtube	muscle
15	chr1:174785600-174789200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:174785600-174796000	Weak transcription	Primary B cells from cord blood	blood
17	chr1:174785600-174796800	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:174786400-174788800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:174786400-174789000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:174786600-174789000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:174786800-174798200	Weak transcription	Left Ventricle	heart
22	chr1:174787200-174788600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:174787600-174788200	Enhancers	GM12878-XiMat	blood
24	chr1:174787800-174788000	Enhancers	Fetal Heart	heart

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