Variant report

Variant	rs7630393
Chromosome Location	chr3:142890705-142890706
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr3:142890609-142890910	HepG2	liver:	n/a	chr3:142890756-142890770
2	MAFK	chr3:142890597-142890919	HepG2	liver:	n/a	chr3:142890755-142890771 chr3:142890753-142890773
3	MAFK	chr3:142890596-142890938	HepG2	liver:	n/a	chr3:142890755-142890771 chr3:142890753-142890773
4	MAFK	chr3:142890559-142890960	IMR90	lung:	n/a	chr3:142890755-142890771 chr3:142890753-142890773
5	MAFF	chr3:142890596-142890935	K562	blood:	n/a	chr3:142890756-142890770
6	POLR2A	chr3:142890429-142890963	SK-N-MC	brain:	n/a	n/a
7	MAFK	chr3:142890585-142890907	K562	blood:	n/a	chr3:142890755-142890771 chr3:142890753-142890773

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142889368..142891930-chr3:142894381..142895952,2	K562	blood:
2	chr3:142889235..142895118-chr3:142897231..142901814,7	K562	blood:

Variant related genes	Relation type
PBX2P1	TF binding region
ENSG00000244171	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13075966	0.91[ASN][1000 genomes]
rs1545423	0.90[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs1968653	0.90[ASN][1000 genomes]
rs2352734	0.91[ASN][1000 genomes]
rs4428143	0.91[ASN][1000 genomes]
rs4440094	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4683753	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6777051	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7643860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646486	0.84[CHB][hapmap]
rs894177	0.94[CHB][hapmap]
rs9813403	0.91[ASN][1000 genomes]
rs9874259	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	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
2	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
3	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
4	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
5	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
6	esv34280	chr3:142887460-142962075	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142882000-142891600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:142884000-142891600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:142884200-142891200	Enhancers	K562	blood
4	chr3:142886800-142891400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:142887600-142891400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:142887800-142891400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:142887800-142891800	Enhancers	Primary B cells from cord blood	blood
8	chr3:142888000-142891200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr3:142888200-142891400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr3:142888200-142891800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:142888600-142891600	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr3:142888600-142891800	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:142889000-142890800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr3:142889000-142891400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr3:142889000-142891400	Enhancers	NH-A	brain
16	chr3:142889000-142891400	Enhancers	Osteobl	bone
17	chr3:142889000-142891600	Enhancers	Fetal Kidney	kidney
18	chr3:142889000-142891800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:142889200-142891600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:142889200-142891600	Enhancers	Fetal Muscle Leg	muscle
21	chr3:142889200-142891800	Enhancers	Fetal Stomach	stomach
22	chr3:142889200-142891800	Enhancers	NHLF	lung
23	chr3:142889400-142890800	Flanking Active TSS	GM12878-XiMat	blood
24	chr3:142889400-142891200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:142889400-142891200	Enhancers	Muscle Satellite Cultured Cells	--
26	chr3:142889600-142891400	Enhancers	NHDF-Ad	bronchial
27	chr3:142889600-142891600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr3:142889600-142891800	Flanking Active TSS	Fetal Thymus	thymus
29	chr3:142889800-142892000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr3:142890000-142891000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:142890000-142891000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:142890000-142891400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:142890000-142891600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr3:142890000-142892000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr3:142890200-142891000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr3:142890200-142891000	Enhancers	Fetal Lung	lung
37	chr3:142890200-142891000	Active TSS	Thymus	Thymus
38	chr3:142890200-142891200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr3:142890200-142891400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr3:142890200-142891600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr3:142890200-142891800	Enhancers	Primary hematopoietic stem cells	blood
42	chr3:142890200-142891800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr3:142890200-142891800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr3:142890200-142892000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr3:142890400-142890800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr3:142890400-142890800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr3:142890400-142891000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:142890400-142891000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:142890400-142892000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr3:142890600-142890800	Enhancers	Rectal Mucosa Donor 31	rectum

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