Variant report

Variant	rs7260129
Chromosome Location	chr19:42426245-42426246
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42426220-42426729	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:42363781..42365777-chr19:42424724..42427512,3	K562	blood:
2	chr19:42416471..42421814-chr19:42422657..42426458,9	K562	blood:
3	chr19:42395725..42398076-chr19:42424314..42426348,2	K562	blood:
4	chr19:42385706..42396512-chr19:42423854..42433641,19	K562	blood:
5	chr19:42386835..42388563-chr19:42423995..42426602,2	K562	blood:

No data

Variant related genes	Relation type
ARHGEF1	TF binding region
ENSG00000076928	Chromatin interaction
ENSG00000105372	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10401937	0.86[AMR][1000 genomes]
rs10402667	0.86[AMR][1000 genomes]
rs10403081	0.83[AMR][1000 genomes]
rs10417495	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs10419314	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs11083640	1.00[CEU][hapmap]
rs11878536	1.00[YRI][hapmap]
rs11878555	1.00[YRI][hapmap]
rs11878734	1.00[CEU][hapmap]
rs11878811	1.00[CEU][hapmap]
rs11879437	1.00[CEU][hapmap]
rs11880977	1.00[CEU][hapmap]
rs11881323	1.00[CEU][hapmap]
rs11881986	0.80[AFR][1000 genomes]
rs11883018	1.00[CEU][hapmap]
rs12104228	1.00[CEU][hapmap]
rs2288512	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes]
rs28396197	0.80[AMR][1000 genomes]
rs28706300	0.86[AMR][1000 genomes]
rs717225	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs7252790	0.83[AMR][1000 genomes]
rs7253691	1.00[CEU][hapmap];0.85[YRI][hapmap]
rs8109784	0.80[AMR][1000 genomes]
rs8113686	1.00[CEU][hapmap];0.80[AMR][1000 genomes]
rs891169	0.83[AMR][1000 genomes]
rs891171	0.83[AMR][1000 genomes]
rs891172	0.83[AMR][1000 genomes]
rs9653098	1.00[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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv911780	chr19:42398450-42521108	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv911781	chr19:42398450-42542999	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42389200-42429200	Weak transcription	Right Atrium	heart
2	chr19:42421000-42431000	Weak transcription	Dnd41	blood
3	chr19:42424400-42427800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr19:42424800-42426600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr19:42424800-42426600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr19:42424800-42426600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr19:42424800-42429200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr19:42425000-42427800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr19:42425200-42426600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
10	chr19:42425200-42426800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:42425200-42426800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr19:42425200-42427800	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr19:42425200-42428200	Enhancers	Primary T cells from cord blood	blood
14	chr19:42425400-42426800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr19:42425400-42427200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:42425600-42432400	Weak transcription	Gastric	stomach
17	chr19:42425800-42427000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:42425800-42428400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:42426000-42426400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
20	chr19:42426000-42426800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr19:42426200-42426400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
22	chr19:42426200-42426400	Bivalent Enhancer	Fetal Brain Male	brain
23	chr19:42426200-42426600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:42426200-42426800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr19:42426200-42429000	Bivalent Enhancer	Primary B cells from cord blood	blood

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