Variant report

Variant	rs9464438
Chromosome Location	chr6:57204627-57204628
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:57197771..57200072-chr6:57204216..57205882,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12180921	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476852	0.85[AFR][1000 genomes]
rs1741910	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1741911	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1741912	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1741913	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1741915	1.00[ASN][1000 genomes]
rs1755831	1.00[ASN][1000 genomes]
rs1755834	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1888265	0.86[AFR][1000 genomes]
rs1888266	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28367021	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28800513	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778513	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3778514	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3800014	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715652	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58482037	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58651731	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59431929	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60821664	0.88[EUR][1000 genomes]
rs6459186	1.00[ASN][1000 genomes]
rs6459188	1.00[ASN][1000 genomes]
rs6911273	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911353	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6936450	1.00[ASN][1000 genomes]
rs7754911	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9396273	1.00[ASN][1000 genomes]
rs9396274	0.89[ASN][1000 genomes]
rs9464433	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9464434	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464437	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9464440	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9475820	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475837	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475840	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475841	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475842	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9475844	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9475845	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475847	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475852	1.00[ASN][1000 genomes]
rs9475856	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475862	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9475863	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9475887	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758056	chr6:57184541-57562604	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759432	chr6:57184541-57562604	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1034139	chr6:57192993-57253423	ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1022055	chr6:57192993-57353692	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:57193600-57207400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr6:57194600-57214800	Weak transcription	Small Intestine	intestine
3	chr6:57194600-57215200	Weak transcription	Ovary	ovary
4	chr6:57194600-57226200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:57194600-57244800	Weak transcription	Spleen	Spleen
6	chr6:57194800-57206000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr6:57194800-57211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:57195600-57212600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:57195600-57238400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:57198200-57212400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr6:57199000-57213800	Weak transcription	K562	blood
12	chr6:57199600-57206000	Weak transcription	Thymus	Thymus
13	chr6:57199600-57206000	Weak transcription	NHDF-Ad	bronchial
14	chr6:57199600-57206800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:57199600-57207400	Weak transcription	NH-A	brain
16	chr6:57199600-57211800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:57199600-57213200	Weak transcription	HSMM	muscle
18	chr6:57199600-57213400	Weak transcription	Fetal Thymus	thymus
19	chr6:57199600-57214600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:57199600-57214800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:57199600-57215200	Weak transcription	Osteobl	bone
22	chr6:57199600-57221000	Weak transcription	Hela-S3	cervix
23	chr6:57199600-57229000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:57199800-57205800	Weak transcription	Primary T cells from cord blood	blood
25	chr6:57199800-57206200	Weak transcription	Brain Germinal Matrix	brain
26	chr6:57199800-57206400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:57199800-57206600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:57199800-57208200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr6:57199800-57210600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:57199800-57210600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:57199800-57210800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:57199800-57210800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:57199800-57210800	Weak transcription	Primary B cells from cord blood	blood
34	chr6:57199800-57210800	Weak transcription	Dnd41	blood
35	chr6:57199800-57211600	Weak transcription	NHLF	lung
36	chr6:57199800-57213200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr6:57199800-57213400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr6:57199800-57213800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:57199800-57214600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:57199800-57251000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:57200000-57206000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:57200000-57218000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:57200600-57206000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:57200600-57215000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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