Variant report

Variant	rs2748153
Chromosome Location	chr6:38522822-38522823
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	chr6:38517461..38519604-chr6:38521981..38524241,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10947742	1.00[CEU][hapmap]
rs13199048	0.94[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2748154	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2748155	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2748158	1.00[CEU][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2814886	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6938737	1.00[CEU][hapmap]
rs7452084	0.91[EUR][1000 genomes]
rs7773783	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9470889	1.00[CEU][hapmap]
rs9470896	0.95[EUR][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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38494400-38524200	Weak transcription	Aorta	Aorta
2	chr6:38496600-38539600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:38497000-38538800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:38497000-38539400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr6:38510600-38546800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:38513000-38539200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:38514200-38539400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:38515600-38535800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:38516000-38538800	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:38517800-38535000	Weak transcription	Brain Substantia Nigra	brain
11	chr6:38519200-38538800	Weak transcription	Primary T cells from cord blood	blood
12	chr6:38519200-38539400	Weak transcription	Left Ventricle	heart
13	chr6:38519600-38554800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:38521400-38532000	Weak transcription	Primary B cells from cord blood	blood
15	chr6:38521800-38523200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:38522000-38523000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:38522000-38523200	Enhancers	NH-A	brain
18	chr6:38522000-38524200	Enhancers	Fetal Brain Female	brain
19	chr6:38522000-38524800	Enhancers	Fetal Brain Male	brain
20	chr6:38522200-38523000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:38522200-38523000	Enhancers	HSMMtube	muscle
22	chr6:38522200-38523200	Enhancers	Rectal Smooth Muscle	rectum
23	chr6:38522200-38523800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:38522200-38524000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:38522400-38523000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr6:38522400-38523200	Enhancers	Colon Smooth Muscle	Colon
27	chr6:38522400-38523200	Enhancers	Osteobl	bone
28	chr6:38522400-38523400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr6:38522400-38523400	Enhancers	NHEK	skin
30	chr6:38522400-38523600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:38522400-38524000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr6:38522600-38523000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:38522600-38523000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:38522600-38523200	Enhancers	NHLF	lung
35	chr6:38522800-38523200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:38522800-38523200	Enhancers	HMEC	breast
37	chr6:38522800-38523400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:38522800-38534800	Weak transcription	Fetal Heart	heart
39	chr6:38522800-38535200	Weak transcription	Psoas Muscle	Psoas

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