Variant report

Variant	rs6923594
Chromosome Location	chr6:38518367-38518368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:38517461..38519604-chr6:38521981..38524241,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12524226	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12525647	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12526648	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12527568	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12528814	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12529497	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12529875	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12529981	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13200466	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13200902	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13203189	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13204248	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13205679	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13214868	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13215050	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13217020	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13219695	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13219887	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17590777	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2395700	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34222507	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34222775	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34903004	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35509063	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35916993	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56867817	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60138764	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60289806	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67863657	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6909533	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6925140	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72853498	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021991	chr6:37893949-38738720	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv534620	chr6:38049585-38602064	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38487000-38518600	Weak transcription	Primary T cells from cord blood	blood
2	chr6:38494400-38518800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:38494400-38524200	Weak transcription	Aorta	Aorta
4	chr6:38494800-38522600	Weak transcription	Ovary	ovary
5	chr6:38495000-38521800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr6:38496600-38539600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:38496800-38521600	Weak transcription	Lung	lung
8	chr6:38497000-38538800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr6:38497000-38539400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr6:38498400-38518400	Weak transcription	Primary B cells from cord blood	blood
11	chr6:38500600-38518600	Weak transcription	Left Ventricle	heart
12	chr6:38500800-38520800	Weak transcription	Fetal Intestine Small	intestine
13	chr6:38501400-38518600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr6:38508200-38522200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:38510200-38522200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:38510400-38522600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:38510600-38546800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:38511600-38522800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:38512200-38519000	Weak transcription	Fetal Intestine Large	intestine
20	chr6:38512200-38519000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr6:38512400-38519400	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:38513000-38522400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:38513000-38539200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr6:38514200-38539400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr6:38515600-38535800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:38516000-38538800	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr6:38517400-38519600	Weak transcription	GM12878-XiMat	blood
28	chr6:38517800-38518600	Weak transcription	Right Atrium	heart
29	chr6:38517800-38519000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr6:38517800-38519400	Weak transcription	Small Intestine	intestine
31	chr6:38517800-38519400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr6:38517800-38519800	Weak transcription	Fetal Heart	heart
33	chr6:38517800-38535000	Weak transcription	Brain Substantia Nigra	brain
34	chr6:38518000-38519600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:38518000-38522200	Weak transcription	HSMMtube	muscle

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