Variant report

Variant	rs2058881
Chromosome Location	chr9:101590884-101590885
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101569950..101572558-chr9:101589132..101591773,2	K562	blood:
2	chr9:101589019..101591816-chr9:101593283..101595363,3	MCF-7	breast:
3	chr9:101590538..101592139-chr9:101593190..101595343,2	K562	blood:
4	chr9:101587154..101591377-chr9:101593024..101595541,4	K562	blood:
5	chr9:101583330..101586949-chr9:101590792..101593415,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119514	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10119228	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10125255	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10739704	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10987843	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1555520	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs180038	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs180039	0.86[ASN][1000 genomes]
rs182877	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2295922	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs337564	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs337565	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs337566	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs337567	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs337568	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs337570	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs337571	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs337580	0.86[ASN][1000 genomes]
rs337583	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs337585	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs337586	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs337587	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs337588	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs337589	0.86[ASN][1000 genomes]
rs337590	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs371521	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4133240	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4133831	0.87[EUR][1000 genomes]
rs429562	0.87[EUR][1000 genomes]
rs439347	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs453409	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4742740	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4742742	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743274	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4743277	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743279	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4743280	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4743283	0.82[EUR][1000 genomes]
rs48418	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs507318	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6415847	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6415849	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs692824	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7029599	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7039118	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs754222	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7846846	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7861840	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7867234	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7867317	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9409306	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv973475	chr9:101579594-101593836	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv973474	chr9:101579594-101595565	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv893617	chr9:101585992-101634716	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv825010	chr9:101587263-101630169	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101573000-101612800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:101576000-101605000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr9:101577800-101610600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:101578000-101596800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:101579200-101610800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:101581600-101591000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr9:101581800-101592400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr9:101582000-101610600	Weak transcription	Aorta	Aorta
9	chr9:101583800-101599600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:101583800-101610600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr9:101584400-101602000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:101584800-101602600	Strong transcription	Fetal Stomach	stomach
13	chr9:101585000-101591000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr9:101585000-101610600	Weak transcription	Brain Angular Gyrus	brain
15	chr9:101585000-101611000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr9:101585200-101598800	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr9:101586000-101610400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:101586800-101595200	Weak transcription	Stomach Mucosa	stomach
19	chr9:101586800-101608000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:101586800-101610600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr9:101587000-101591600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr9:101587000-101594200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr9:101587000-101599200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr9:101587200-101595600	Weak transcription	Spleen	Spleen
25	chr9:101587600-101595600	Strong transcription	Fetal Intestine Small	intestine
26	chr9:101587800-101607200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:101588000-101610600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr9:101588200-101610800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:101588200-101610800	Weak transcription	Adipose Nuclei	Adipose
30	chr9:101588400-101591000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:101588400-101604200	Weak transcription	Small Intestine	intestine
32	chr9:101588400-101609800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr9:101588800-101591000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr9:101588800-101592000	Weak transcription	K562	blood
35	chr9:101589000-101591000	Strong transcription	Primary T cells from cord blood	blood
36	chr9:101589000-101596000	Weak transcription	Fetal Brain Male	brain
37	chr9:101589200-101593800	Weak transcription	Fetal Thymus	thymus
38	chr9:101589200-101600800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr9:101589200-101613800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr9:101589400-101595400	Weak transcription	Lung	lung
41	chr9:101589400-101599400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:101589400-101610400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:101589800-101594000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:101589800-101599600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr9:101590000-101593000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:101590200-101610000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr9:101590400-101600600	Weak transcription	Colon Smooth Muscle	Colon
48	chr9:101590600-101595000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr9:101590600-101595400	Weak transcription	Pancreas	Pancrea
50	chr9:101590600-101597000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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