Variant report

Variant	rs9872564
Chromosome Location	chr3:69353858-69353859
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11128123	0.82[CEU][hapmap]
rs11128125	0.80[CHB][hapmap]
rs1976064	0.80[CHB][hapmap]
rs2005546	0.80[CHB][hapmap]
rs4855384	0.92[CEU][hapmap];0.91[GIH][hapmap];0.82[MEX][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6549200	0.90[CHB][hapmap]
rs6774290	0.90[CHB][hapmap]
rs9820308	0.80[CHB][hapmap]
rs9869925	0.80[CHB][hapmap]
rs9876410	0.90[CHB][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9872564	FRMD4B	cis	multi-tissue	Pritchard

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69331600-69355400	Weak transcription	Adipose Nuclei	Adipose
2	chr3:69338200-69355800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr3:69339600-69355800	Weak transcription	Spleen	Spleen
4	chr3:69339600-69357200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:69342000-69355400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:69343800-69362200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr3:69344000-69355400	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:69344000-69355400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:69344000-69370000	Weak transcription	Fetal Brain Male	brain
10	chr3:69344000-69370000	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:69344600-69355800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:69344800-69354000	Strong transcription	NHEK	skin
13	chr3:69346800-69356800	Weak transcription	Thymus	Thymus
14	chr3:69347800-69357600	Weak transcription	Fetal Stomach	stomach
15	chr3:69348000-69356600	Weak transcription	Lung	lung
16	chr3:69348000-69369400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:69348800-69354600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr3:69349200-69354000	Weak transcription	Osteobl	bone
19	chr3:69349200-69355400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:69349200-69368800	Weak transcription	Fetal Brain Female	brain
21	chr3:69349400-69354600	Weak transcription	Brain Substantia Nigra	brain
22	chr3:69349400-69355400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:69349600-69356800	Weak transcription	Fetal Thymus	thymus
24	chr3:69350000-69355000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:69350000-69355400	Weak transcription	HSMMtube	muscle
26	chr3:69350000-69374200	Weak transcription	Aorta	Aorta
27	chr3:69350600-69357200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr3:69351400-69355400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:69351600-69355200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:69351600-69355400	Weak transcription	Fetal Heart	heart
31	chr3:69351600-69356800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:69351800-69354000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:69351800-69355400	Weak transcription	HSMM	muscle
34	chr3:69351800-69355600	Weak transcription	Fetal Lung	lung
35	chr3:69351800-69355800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr3:69351800-69355800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr3:69352000-69355400	Weak transcription	HMEC	breast
38	chr3:69352000-69356800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:69352400-69357000	Weak transcription	Dnd41	blood
40	chr3:69353200-69354200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:69353600-69355200	Strong transcription	Primary hematopoietic stem cells	blood
42	chr3:69353600-69356000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:69353800-69354400	Enhancers	Brain Hippocampus Middle	brain
44	chr3:69353800-69354400	Enhancers	Fetal Intestine Small	intestine
45	chr3:69353800-69355200	Enhancers	Brain Angular Gyrus	brain
46	chr3:69353800-69355400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:69353800-69356200	Enhancers	HUVEC	blood vessel
48	chr3:69353800-69356400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:69353800-69357400	Enhancers	Brain Anterior Caudate	brain

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