Variant report

Variant	rs4683448
Chromosome Location	chr3:142845585-142845586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:142843327-142845853	GM12891	blood:	n/a	n/a
2	POLR2A	chr3:142844543-142847030	GM12891	blood:	n/a	n/a
3	POLR2A	chr3:142843371-142847565	GM12891	blood:	n/a	n/a
4	POLR2A	chr3:142841403-142847174	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142841180..142845810-chr3:142884202..142887242,4	K562	blood:
2	chr3:142845393..142847101-chr3:143393090..143394841,2	K562	blood:
3	chr22:21977706..21979861-chr3:142843771..142846008,2	K562	blood:
4	chr3:142794271..142797141-chr3:142844007..142845720,2	K562	blood:
5	chr3:142835029..142837215-chr3:142844723..142846346,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000241679	TF binding region
ENSG00000211483	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10084718	0.81[EUR][1000 genomes]
rs1056360	0.81[EUR][1000 genomes]
rs1134685	0.81[EUR][1000 genomes]
rs11718140	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1597389	0.81[EUR][1000 genomes]
rs2292509	0.91[ASN][1000 genomes]
rs4683449	0.82[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4683451	0.82[EUR][1000 genomes]
rs4683741	0.81[EUR][1000 genomes]
rs56367421	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56405449	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6770489	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6780752	0.81[CEU][hapmap]
rs6794836	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs6801537	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs6805732	0.86[CEU][hapmap]
rs735564	0.96[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142839200-142845800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr3:142839200-142847200	Transcr. at gene 5' and 3'	Fetal Lung	lung
3	chr3:142840600-142854600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:142841000-142848600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:142841200-142852800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:142841200-142853200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:142841200-142858000	Weak transcription	Spleen	Spleen
8	chr3:142844000-142848600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:142844000-142853200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:142844200-142846200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr3:142844200-142853400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:142844400-142846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:142844400-142846800	Weak transcription	Fetal Stomach	stomach
14	chr3:142844400-142847400	Weak transcription	NHLF	lung
15	chr3:142844400-142847800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:142844400-142849800	Weak transcription	Fetal Brain Female	brain
17	chr3:142844600-142846400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:142844600-142846600	Genic enhancers	Fetal Thymus	thymus
19	chr3:142844600-142853000	Weak transcription	Primary B cells from cord blood	blood
20	chr3:142844600-142853200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:142844800-142847800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr3:142844800-142852600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr3:142844800-142858200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:142845000-142845600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr3:142845000-142846000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr3:142845200-142845600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:142845200-142845600	Genic enhancers	K562	blood
28	chr3:142845200-142845800	Genic enhancers	Primary T cells from cord blood	blood
29	chr3:142845200-142845800	ZNF genes & repeats	Fetal Brain Male	brain
30	chr3:142845200-142845800	Enhancers	Fetal Kidney	kidney
31	chr3:142845200-142846200	Weak transcription	Thymus	Thymus
32	chr3:142845200-142846600	Enhancers	GM12878-XiMat	blood
33	chr3:142845400-142845800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:142845400-142846000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:142845400-142846400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr3:142845400-142846600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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