Variant report

Variant	rs72903345
Chromosome Location	chr1:57491352-57491353
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57479613..57481966-chr1:57490580..57493279,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55666624	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55841159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56082491	0.87[AFR][1000 genomes]
rs56979642	1.00[AFR][1000 genomes]
rs58224442	0.87[AFR][1000 genomes]
rs58997596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61169655	0.87[AFR][1000 genomes]
rs72903332	0.90[AFR][1000 genomes]
rs72903354	1.00[AFR][1000 genomes]
rs72903369	0.87[AFR][1000 genomes]
rs72903384	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv428752	chr1:57455083-57605082	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv461628	chr1:57463326-57816489	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv546305	chr1:57463326-57816489	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr1:57483200-57494000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:57485200-57494800	Weak transcription	Fetal Brain Female	brain
3	chr1:57485400-57498000	Weak transcription	Liver	Liver
4	chr1:57486000-57502600	Weak transcription	Fetal Brain Male	brain
5	chr1:57487800-57498800	Weak transcription	Fetal Intestine Large	intestine
6	chr1:57489600-57491400	Enhancers	Brain Germinal Matrix	brain
7	chr1:57490000-57491400	Enhancers	Brain Substantia Nigra	brain
8	chr1:57490200-57491400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:57490200-57491600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:57490200-57491600	Enhancers	Stomach Smooth Muscle	stomach
11	chr1:57490200-57493000	Enhancers	Colon Smooth Muscle	Colon
12	chr1:57490400-57491400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:57490400-57491400	Enhancers	Brain Angular Gyrus	brain
14	chr1:57490400-57491400	Strong transcription	Fetal Intestine Small	intestine
15	chr1:57490600-57491400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:57490600-57491400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:57490600-57491400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:57490600-57491400	Enhancers	Brain Hippocampus Middle	brain
19	chr1:57490600-57492000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:57490800-57491800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr1:57490800-57491800	Enhancers	HepG2	liver
22	chr1:57491000-57491400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:57491000-57491400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:57491000-57491800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:57491000-57491800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:57491200-57491400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr1:57491200-57491400	Enhancers	Fetal Stomach	stomach
28	chr1:57491200-57493000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:57491200-57493200	Enhancers	NHEK	skin

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