Variant report

Variant	rs28692657
Chromosome Location	chr1:223263153-223263154
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223255571..223258330-chr1:223261205..223265353,4	MCF-7	breast:
2	chr1:223256187..223259104-chr1:223259993..223263553,3	K562	blood:
3	chr1:223262068..223263627-chr1:223296887..223298444,2	K562	blood:
4	chr1:223263134..223264236-chr1:223296939..223297699,6	MCF-7	breast:
5	chr1:223261756..223264269-chr1:223267551..223270290,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1640843	0.89[EUR][1000 genomes]
rs2110582	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2353480	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28368761	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28411712	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28470412	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28477905	0.85[EUR][1000 genomes]
rs28516626	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28575203	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34270714	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61840075	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61840076	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61840077	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61840135	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61840136	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6665238	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67762955	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7365624	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7365725	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7366469	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7413993	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7414121	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7415320	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr1:223254600-223264400	Weak transcription	Lung	lung
2	chr1:223254800-223266800	Weak transcription	Left Ventricle	heart
3	chr1:223255000-223269000	Weak transcription	Right Ventricle	heart
4	chr1:223255800-223263600	Enhancers	Fetal Stomach	stomach
5	chr1:223257000-223263600	Enhancers	Fetal Muscle Leg	muscle
6	chr1:223257000-223263800	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:223258200-223263200	Weak transcription	Pancreas	Pancrea
8	chr1:223259000-223263200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:223259000-223263200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:223259400-223263800	Enhancers	Fetal Brain Male	brain
11	chr1:223260600-223263600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr1:223261200-223263600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:223261200-223263600	Enhancers	Fetal Lung	lung
14	chr1:223261600-223263200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:223261600-223263200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:223261600-223263800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:223262000-223263800	Enhancers	Stomach Smooth Muscle	stomach
18	chr1:223262200-223263200	Weak transcription	Fetal Thymus	thymus
19	chr1:223262200-223263400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:223263000-223263400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr1:223263000-223263400	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr1:223263000-223263400	Enhancers	Fetal Muscle Trunk	muscle
23	chr1:223263000-223263400	Weak transcription	HepG2	liver
24	chr1:223263000-223263600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr1:223263000-223263600	Enhancers	HUES6 Cell Line	embryonic stem cell

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