Variant report

Variant	rs9385545
Chromosome Location	chr6:130848044-130848045
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1203354	0.88[ASN][1000 genomes]
rs12665689	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17059212	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1815602	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1933758	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2209147	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2326913	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4895888	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4897439	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56019502	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62431563	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62431565	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62431566	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72988212	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7451336	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7452034	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7754423	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9375727	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9385546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:130844600-130848400	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr6:130844600-130848600	Enhancers	Primary hematopoietic stem cells	blood
3	chr6:130844800-130848800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:130845000-130848200	Enhancers	Fetal Thymus	thymus
5	chr6:130845000-130848400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr6:130845200-130848200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:130845600-130848800	Enhancers	Primary B cells from peripheral blood	blood
8	chr6:130845800-130848600	Enhancers	GM12878-XiMat	blood
9	chr6:130846000-130851000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:130846400-130848600	Enhancers	Dnd41	blood
11	chr6:130846600-130848800	Enhancers	Primary T cells from cord blood	blood
12	chr6:130846600-130849000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:130847200-130848800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:130847400-130848800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr6:130847600-130848200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:130847600-130848400	Enhancers	HMEC	breast
17	chr6:130847600-130848800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:130847600-130851200	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:130847800-130848600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr6:130847800-130848800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:130848000-130848600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:130848000-130848800	Enhancers	NHEK	skin

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