Variant report

Variant	rs4683600
Chromosome Location	chr3:141046859-141046860
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:141044888..141047671-chr3:141061362..141063749,2	K562	blood:
2	chr3:141044600..141047576-chr3:141085948..141088845,2	MCF-7	breast:
3	chr3:141044721..141047194-chr3:141049083..141050797,2	MCF-7	breast:
4	chr3:141039246..141041053-chr3:141044683..141046935,2	K562	blood:
5	chr3:141038218..141041053-chr3:141044225..141046935,2	K562	blood:

Variant related genes	Relation type
ENSG00000177311	Chromatin interaction
ENSG00000249417	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13088239	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13094525	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1983233	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2871887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6439999	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6778010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6807533	0.98[ASN][1000 genomes]
rs72986540	0.94[ASN][1000 genomes]
rs72986545	0.97[ASN][1000 genomes]
rs9838625	0.87[MEX][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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141031800-141047400	Weak transcription	Right Ventricle	heart
2	chr3:141040600-141049000	Weak transcription	Hela-S3	cervix
3	chr3:141040600-141049200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:141043400-141047000	Weak transcription	Small Intestine	intestine
5	chr3:141045200-141047600	Weak transcription	NHDF-Ad	bronchial
6	chr3:141045800-141047800	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr3:141045800-141049000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:141045800-141049200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:141045800-141050000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:141045800-141050200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:141045800-141051200	Weak transcription	Lung	lung
12	chr3:141046000-141053800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr3:141046200-141047000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr3:141046200-141047800	Enhancers	Duodenum Mucosa	Duodenum
15	chr3:141046200-141049000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:141046200-141049400	Weak transcription	HUVEC	blood vessel
17	chr3:141046200-141053400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:141046200-141055800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:141046400-141047400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr3:141046400-141049000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:141046400-141049000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:141046400-141049800	Weak transcription	HepG2	liver
23	chr3:141046400-141052400	Weak transcription	Pancreas	Pancrea
24	chr3:141046400-141055800	Genic enhancers	Fetal Intestine Small	intestine
25	chr3:141046600-141047000	Weak transcription	A549	lung
26	chr3:141046600-141047400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr3:141046600-141048400	Enhancers	K562	blood
28	chr3:141046800-141047000	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr3:141046800-141047000	Enhancers	GM12878-XiMat	blood
30	chr3:141046800-141047800	Enhancers	Colonic Mucosa	Colon

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