Variant report

Variant	rs28373518
Chromosome Location	chr1:223257624-223257625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223256187..223259104-chr1:223259993..223263553,3	K562	blood:
2	chr1:223255345..223257281-chr1:223257516..223259311,2	MCF-7	breast:
3	chr1:222964992..222967701-chr1:223257244..223259101,2	MCF-7	breast:
4	chr1:223255571..223258330-chr1:223261205..223265353,4	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1624408	1.00[EUR][1000 genomes]
rs1640869	1.00[EUR][1000 genomes]
rs28445941	1.00[EUR][1000 genomes]
rs28488039	1.00[EUR][1000 genomes]
rs28782805	1.00[EUR][1000 genomes]
rs35801972	1.00[EUR][1000 genomes]
rs5744110	1.00[EUR][1000 genomes]
rs6658085	1.00[EUR][1000 genomes]
rs6693240	1.00[EUR][1000 genomes]
rs725972	1.00[EUR][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	chr1:223249200-223258400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:223252600-223261400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:223254600-223264400	Weak transcription	Lung	lung
4	chr1:223254800-223258200	Weak transcription	Fetal Heart	heart
5	chr1:223254800-223266800	Weak transcription	Left Ventricle	heart
6	chr1:223255000-223257800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:223255000-223260200	Weak transcription	Fetal Brain Female	brain
8	chr1:223255000-223269000	Weak transcription	Right Ventricle	heart
9	chr1:223255200-223257800	Weak transcription	Placenta	Placenta
10	chr1:223255200-223258000	Weak transcription	Fetal Intestine Small	intestine
11	chr1:223255200-223260200	Weak transcription	Dnd41	blood
12	chr1:223255800-223263600	Enhancers	Fetal Stomach	stomach
13	chr1:223256400-223259400	Weak transcription	Fetal Brain Male	brain
14	chr1:223256800-223260200	Enhancers	Stomach Smooth Muscle	stomach
15	chr1:223257000-223257800	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:223257000-223263600	Enhancers	Fetal Muscle Leg	muscle
17	chr1:223257000-223263800	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:223257200-223258000	Flanking Active TSS	Fetal Lung	lung
19	chr1:223257200-223258200	Enhancers	Colon Smooth Muscle	Colon
20	chr1:223257200-223258200	Enhancers	Pancreas	Pancrea
21	chr1:223257200-223258800	Weak transcription	Fetal Thymus	thymus
22	chr1:223257200-223259200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:223257400-223258000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:223257400-223258200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:223257600-223261400	Weak transcription	Brain Germinal Matrix	brain

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