Variant report

Variant	rs58247585
Chromosome Location	chr9:115604996-115604997
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:115598488..115601038-chr9:115603652..115606343,4	MCF-7	breast:
2	chr9:115568175..115570231-chr9:115604790..115606325,2	K562	blood:

Variant related genes	Relation type
ENSG00000148158	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10513169	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10817391	0.96[EUR][1000 genomes]
rs10817392	0.96[EUR][1000 genomes]
rs10817395	0.96[EUR][1000 genomes]
rs10981493	0.86[ASN][1000 genomes]
rs10981513	0.88[EUR][1000 genomes]
rs10981516	0.96[EUR][1000 genomes]
rs10981519	0.96[EUR][1000 genomes]
rs10981521	0.96[EUR][1000 genomes]
rs10981522	0.96[EUR][1000 genomes]
rs10981523	0.96[EUR][1000 genomes]
rs10981530	0.89[EUR][1000 genomes]
rs10981531	0.89[EUR][1000 genomes]
rs10981533	0.84[EUR][1000 genomes]
rs11791125	0.96[EUR][1000 genomes]
rs11793016	0.96[EUR][1000 genomes]
rs12003317	0.92[AFR][1000 genomes]
rs1573055	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573056	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17742501	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17742994	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17743418	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17743824	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821593	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2185767	0.94[EUR][1000 genomes]
rs2645988	0.93[ASN][1000 genomes]
rs41280189	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4276760	0.94[EUR][1000 genomes]
rs4574920	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57546880	0.96[EUR][1000 genomes]
rs57672123	0.96[EUR][1000 genomes]
rs59645636	0.96[EUR][1000 genomes]
rs60989307	0.96[EUR][1000 genomes]
rs61626147	0.96[EUR][1000 genomes]
rs62576361	0.90[ASN][1000 genomes]
rs62576362	0.84[ASN][1000 genomes]
rs62576365	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62576366	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62576369	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62576370	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62576371	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62576383	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62576384	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62576385	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576386	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576389	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576390	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576391	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576392	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576393	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576394	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576395	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576396	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576405	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576406	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62576407	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576409	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576410	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576411	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576412	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576413	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576414	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576415	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62576438	0.89[EUR][1000 genomes]
rs73550374	0.88[AFR][1000 genomes]
rs73552462	0.88[AFR][1000 genomes]
rs73552470	0.85[AFR][1000 genomes]
rs7467129	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs883462	0.93[EUR][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	esv2758198	chr9:115240454-116002951	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759710	chr9:115240454-116002951	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv893733	chr9:115397206-115712068	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv2422302	chr9:115550339-115656433	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	esv2757351	chr9:115600623-115632898	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv8560	chr9:115604643-115608912	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115570600-115608400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:115573600-115607800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:115577600-115630400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr9:115580200-115608400	Weak transcription	Fetal Kidney	kidney
5	chr9:115582200-115608600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:115582400-115608600	Weak transcription	NHLF	lung
7	chr9:115582400-115609000	Weak transcription	NHDF-Ad	bronchial
8	chr9:115582400-115630000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:115584400-115608800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:115591200-115606800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:115591400-115623200	Weak transcription	Fetal Heart	heart
12	chr9:115592600-115607200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr9:115593200-115611000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr9:115593600-115607200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:115594200-115607200	Weak transcription	Fetal Thymus	thymus
16	chr9:115594200-115610800	Weak transcription	Esophagus	oesophagus
17	chr9:115594200-115616000	Weak transcription	Small Intestine	intestine
18	chr9:115594200-115620400	Weak transcription	Thymus	Thymus
19	chr9:115594200-115634400	Weak transcription	NH-A	brain
20	chr9:115594400-115608600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:115594400-115626800	Weak transcription	Colon Smooth Muscle	Colon
22	chr9:115594600-115607200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr9:115594600-115607200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:115596400-115613600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr9:115597400-115605600	Strong transcription	Primary T cells from cord blood	blood
26	chr9:115598000-115605000	Strong transcription	Fetal Muscle Leg	muscle
27	chr9:115598600-115615200	Weak transcription	Psoas Muscle	Psoas
28	chr9:115598800-115608400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr9:115598800-115608800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr9:115598800-115610600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:115598800-115613200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr9:115599000-115606800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:115599000-115607200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr9:115599000-115607800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:115599000-115623200	Weak transcription	Right Ventricle	heart
36	chr9:115599200-115607200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr9:115599400-115608800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr9:115599400-115609000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr9:115599400-115610600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:115599400-115612000	Weak transcription	Pancreas	Pancrea
41	chr9:115599400-115612800	Weak transcription	Placenta	Placenta
42	chr9:115599400-115613000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr9:115599400-115615200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:115599400-115623600	Weak transcription	Right Atrium	heart
45	chr9:115599400-115625200	Weak transcription	Colonic Mucosa	Colon
46	chr9:115600800-115608600	Weak transcription	HSMM	muscle
47	chr9:115601000-115607400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr9:115601000-115610600	Weak transcription	Spleen	Spleen
49	chr9:115601000-115612400	Weak transcription	Aorta	Aorta
50	chr9:115601200-115606200	Weak transcription	HSMMtube	muscle

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