Variant report

Variant	rs4683598
Chromosome Location	chr3:141043333-141043334
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141041261..141045456-chr3:141085742..141089187,4	K562	blood:
2	chr3:141041057..141042632-chr3:141043258..141046046,3	K562	blood:
3	chr3:141041261..141043649-chr3:141085742..141087985,3	K562	blood:

Variant related genes	Relation type
ENSG00000249417	Chromatin interaction
ENSG00000177311	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16851412	1.00[CEU][hapmap]
rs4683599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60036952	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs925418	1.00[CEU][hapmap]

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	nsv829744	chr3:141016749-141189168	Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv460871	chr3:141027614-141074962	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv591893	chr3:141027614-141074962	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141031800-141047400	Weak transcription	Right Ventricle	heart
2	chr3:141040200-141044000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:141040200-141044600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:141040200-141045200	Weak transcription	Lung	lung
5	chr3:141040600-141045200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:141040600-141049000	Weak transcription	Hela-S3	cervix
7	chr3:141040600-141049200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:141040800-141044800	Weak transcription	HUVEC	blood vessel
9	chr3:141041400-141044800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:141042000-141043400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:141042200-141044200	Enhancers	A549	lung
12	chr3:141042400-141043400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:141042400-141044200	Enhancers	Liver	Liver
14	chr3:141042400-141044800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr3:141042800-141044600	Active TSS	Rectal Smooth Muscle	rectum
16	chr3:141042800-141045600	Active TSS	Duodenum Mucosa	Duodenum
17	chr3:141042800-141045600	Active TSS	Fetal Intestine Small	intestine
18	chr3:141043000-141043400	Active TSS	Small Intestine	intestine
19	chr3:141043000-141043400	Flanking Active TSS	HepG2	liver
20	chr3:141043000-141043600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr3:141043000-141045600	Active TSS	Fetal Intestine Large	intestine
22	chr3:141043200-141043400	Weak transcription	Fetal Kidney	kidney
23	chr3:141043200-141043400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr3:141043200-141045200	Weak transcription	Pancreas	Pancrea
25	chr3:141043200-141045600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:141043200-141046000	Weak transcription	K562	blood
27	chr3:141043200-141046800	Weak transcription	Colonic Mucosa	Colon

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