Variant report

Variant	rs6549199
Chromosome Location	chr3:69367538-69367539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11128124	1.00[AMR][1000 genomes]
rs11920822	1.00[AMR][1000 genomes]
rs11925020	1.00[AMR][1000 genomes]
rs1483894	1.00[AMR][1000 genomes]
rs1809486	1.00[AMR][1000 genomes]
rs1843047	1.00[AMR][1000 genomes]
rs2007561	1.00[AMR][1000 genomes]
rs2128973	1.00[AMR][1000 genomes]
rs2314988	1.00[AMR][1000 genomes]
rs34772648	1.00[AMR][1000 genomes]
rs4855306	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4855392	1.00[AMR][1000 genomes]
rs4855393	1.00[AMR][1000 genomes]
rs6549212	1.00[AMR][1000 genomes]
rs6769290	1.00[AMR][1000 genomes]
rs6783290	1.00[AMR][1000 genomes]
rs6794191	1.00[AMR][1000 genomes]
rs72937850	1.00[AMR][1000 genomes]
rs7645568	1.00[AMR][1000 genomes]
rs7649640	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876935	chr3:69307942-69401248	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1007730	chr3:69355932-69730587	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69344000-69370000	Weak transcription	Fetal Brain Male	brain
2	chr3:69344000-69370000	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:69348000-69369400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:69349200-69368800	Weak transcription	Fetal Brain Female	brain
5	chr3:69350000-69374200	Weak transcription	Aorta	Aorta
6	chr3:69356000-69373200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:69356200-69368800	Weak transcription	Fetal Heart	heart
8	chr3:69356200-69369800	Weak transcription	Fetal Lung	lung
9	chr3:69356400-69371000	Weak transcription	Placenta	Placenta
10	chr3:69356400-69372000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:69357800-69370000	Weak transcription	Spleen	Spleen
12	chr3:69358200-69370000	Weak transcription	Fetal Thymus	thymus
13	chr3:69358600-69369600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:69359400-69370000	Weak transcription	Thymus	Thymus
15	chr3:69360600-69382200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:69360800-69372000	Weak transcription	HSMM	muscle
17	chr3:69361400-69372000	Weak transcription	HMEC	breast
18	chr3:69362600-69369400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:69362600-69370800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:69362600-69373200	Weak transcription	Dnd41	blood
21	chr3:69362800-69367600	Weak transcription	Lung	lung
22	chr3:69362800-69369400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:69362800-69369400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr3:69362800-69369600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:69362800-69369800	Weak transcription	HUVEC	blood vessel
26	chr3:69362800-69370200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:69362800-69371200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:69363000-69369200	Weak transcription	NHEK	skin
29	chr3:69366200-69369000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr3:69366400-69370800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:69366400-69376200	Enhancers	Brain Anterior Caudate	brain
32	chr3:69366800-69378200	Enhancers	Brain Hippocampus Middle	brain
33	chr3:69367000-69368000	Enhancers	Brain Cingulate Gyrus	brain
34	chr3:69367200-69369200	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr3:69367200-69378400	Enhancers	Brain Substantia Nigra	brain
36	chr3:69367400-69374800	Enhancers	Brain Angular Gyrus	brain

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