Variant report

Variant	rs2030023
Chromosome Location	chr6:131018421-131018422
allele	A/T
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	TCF12	chr6:131017823-131018532	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr6:131017810-131018561	SK-N-SH	brain:	n/a	n/a
3	EP300	chr6:131018060-131018442	SK-N-SH_RA	brain:	n/a	n/a
4	GATA3	chr6:131017757-131018620	SK-N-SH	brain:	n/a	chr6:131018180-131018187 chr6:131018173-131018194 chr6:131018180-131018189 chr6:131018180-131018187 chr6:131018180-131018187 chr6:131018179-131018189
5	GATA3	chr6:131017824-131018505	SK-N-SH	brain:	n/a	chr6:131018180-131018187 chr6:131018173-131018194 chr6:131018180-131018189 chr6:131018180-131018187 chr6:131018180-131018187 chr6:131018179-131018189
6	EBF1	chr6:131018286-131018465	GM12878	blood:	n/a	chr6:131018395-131018406 chr6:131018397-131018406
7	TCF12	chr6:131017790-131018563	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr6:131017877-131018497	SK-N-SH	brain:	n/a	n/a
9	GATA2	chr6:131017987-131018500	HUVEC	blood vessel:	n/a	chr6:131018180-131018187 chr6:131018173-131018194 chr6:131018175-131018189 chr6:131018180-131018189 chr6:131018180-131018187 chr6:131018180-131018187 chr6:131018179-131018189
10	EP300	chr6:131017788-131018545	SK-N-SH	brain:	n/a	chr6:131017894-131017902

Variant related genes	Relation type
ENSG00000229923	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1032614	0.86[ASN][1000 genomes]
rs1497886	0.91[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4386835	0.89[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7772332	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs9321249	0.89[EUR][1000 genomes]
rs9385556	0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv830806	chr6:130938330-131107137	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv604664	chr6:131004998-131115817	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv522019	chr6:131017953-131019627	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 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	chr6:131015800-131019000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:131017600-131018800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:131017600-131019000	Enhancers	HUVEC	blood vessel
4	chr6:131017600-131019200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr6:131017600-131019200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr6:131017600-131019600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:131017600-131019600	Enhancers	Osteobl	bone
8	chr6:131017800-131019200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:131017800-131019400	Enhancers	NHEK	skin
10	chr6:131017800-131019600	Enhancers	Primary T cells from cord blood	blood
11	chr6:131017800-131019600	Enhancers	NHDF-Ad	bronchial
12	chr6:131018000-131019000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:131018000-131019200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:131018000-131019600	Enhancers	Dnd41	blood
15	chr6:131018000-131020800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr6:131018200-131019000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:131018200-131019200	Enhancers	HMEC	breast
18	chr6:131018200-131019200	Enhancers	NHLF	lung
19	chr6:131018200-131019400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr6:131018200-131019600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:131018200-131019600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:131018200-131019600	Enhancers	NH-A	brain
23	chr6:131018400-131019200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:131018400-131019200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:131018400-131019200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:131018400-131019600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr6:131018400-131029200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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