Variant report

Variant	rs3774583
Chromosome Location	chr3:53803263-53803264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:53802903..53804940-chr3:53924077..53926191,2	K562	blood:

Variant related genes	Relation type
ENSG00000113811	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11705918	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs11720848	0.95[CEU][hapmap];0.89[CHB][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13068596	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2253795	0.90[CEU][hapmap];0.89[CHB][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2612028	0.95[CEU][hapmap];0.89[CHB][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2680648	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs35146621	0.93[ASN][1000 genomes]
rs35447065	0.92[EUR][1000 genomes]
rs35484438	0.84[AMR][1000 genomes]
rs3774573	0.95[CEU][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3774574	0.91[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs719260	0.90[CEU][hapmap];0.94[EUR][1000 genomes]
rs73092085	0.82[EUR][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	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53773000-53807600	Strong transcription	Fetal Intestine Large	intestine
2	chr3:53774800-53807200	Strong transcription	Fetal Intestine Small	intestine
3	chr3:53778600-53806400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr3:53779000-53806400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:53780400-53807000	Weak transcription	Fetal Brain Female	brain
6	chr3:53781800-53807400	Weak transcription	Brain Anterior Caudate	brain
7	chr3:53785000-53811200	Weak transcription	Spleen	Spleen
8	chr3:53785800-53806600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:53786000-53808200	Weak transcription	Liver	Liver
10	chr3:53788800-53807000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr3:53789800-53814600	Weak transcription	Brain Substantia Nigra	brain
12	chr3:53796400-53806800	Weak transcription	Brain Angular Gyrus	brain
13	chr3:53796600-53807000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr3:53796800-53808000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr3:53798000-53807400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:53798400-53804000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr3:53798800-53807400	Weak transcription	Fetal Brain Male	brain
18	chr3:53799000-53803400	Weak transcription	Lung	lung
19	chr3:53800000-53804800	Weak transcription	Pancreas	Pancrea
20	chr3:53801800-53803800	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:53801800-53803800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:53801800-53803800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:53802000-53807400	Strong transcription	Fetal Lung	lung
24	chr3:53802200-53803800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr3:53802200-53807200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:53802400-53807000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr3:53802400-53818200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr3:53802600-53803600	Enhancers	Fetal Heart	heart
29	chr3:53802600-53803600	Enhancers	Fetal Thymus	thymus
30	chr3:53802600-53803800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr3:53802600-53804200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr3:53802800-53803600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr3:53802800-53804400	Enhancers	GM12878-XiMat	blood
34	chr3:53803000-53803400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:53803000-53803400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr3:53803000-53803600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:53803000-53803800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr3:53803000-53803800	Bivalent Enhancer	Fetal Stomach	stomach
39	chr3:53803000-53807400	Weak transcription	Brain Hippocampus Middle	brain
40	chr3:53803200-53803400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:53803200-53803800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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