Variant report

Variant	rs1997949
Chromosome Location	chr6:38581406-38581407
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1699014	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1699015	0.88[AMR][1000 genomes]
rs1699018	0.90[AMR][1000 genomes]
rs1781742	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6458060	0.86[AMR][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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38565400-38589200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr6:38565800-38583200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:38565800-38583600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr6:38568200-38584200	Weak transcription	Primary B cells from cord blood	blood
5	chr6:38571600-38581800	Weak transcription	Left Ventricle	heart
6	chr6:38572000-38591600	Weak transcription	Fetal Intestine Small	intestine
7	chr6:38572800-38581800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:38578000-38582600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:38578600-38581600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr6:38580600-38581800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:38580600-38582000	Enhancers	Lung	lung
12	chr6:38580600-38600200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:38580600-38601800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:38580800-38581600	Weak transcription	Psoas Muscle	Psoas
15	chr6:38580800-38581800	Weak transcription	Right Ventricle	heart
16	chr6:38580800-38585800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:38580800-38589400	Weak transcription	Right Atrium	heart
18	chr6:38580800-38594000	Weak transcription	Small Intestine	intestine
19	chr6:38580800-38604400	Weak transcription	Ovary	ovary
20	chr6:38581000-38585800	Weak transcription	HSMMtube	muscle
21	chr6:38581000-38586200	Weak transcription	Osteobl	bone
22	chr6:38581200-38581600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:38581200-38585800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:38581400-38581800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:38581400-38581800	Enhancers	NHDF-Ad	bronchial
26	chr6:38581400-38585800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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