Variant report

Variant	rs7001006
Chromosome Location	chr8:120604794-120604795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10505367	0.81[LWK][hapmap]
rs1057722	1.00[MEX][hapmap]
rs16892531	1.00[MEX][hapmap]
rs16892753	1.00[AMR][1000 genomes]
rs16892767	0.89[MKK][hapmap]
rs16892790	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892852	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16892878	0.80[YRI][hapmap]
rs16892902	1.00[MEX][hapmap]
rs2289887	0.82[LWK][hapmap]
rs6986021	0.81[LWK][hapmap]
rs6988706	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7008865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7842627	0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7001006	FHL1	trans	lymphoblastoid	seeQTL
rs7001006	SATB1	trans	lymphoblastoid	seeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120566000-120609200	Weak transcription	Aorta	Aorta
2	chr8:120569600-120613600	Weak transcription	Small Intestine	intestine
3	chr8:120572200-120614200	Weak transcription	Fetal Intestine Large	intestine
4	chr8:120573000-120607200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:120591000-120605400	Weak transcription	Fetal Brain Male	brain
6	chr8:120593000-120604800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:120595600-120638000	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:120595800-120633000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:120595800-120637800	Weak transcription	Fetal Stomach	stomach
10	chr8:120596200-120606800	Weak transcription	Primary T cells from cord blood	blood
11	chr8:120597600-120634400	Weak transcription	Fetal Thymus	thymus
12	chr8:120599200-120608000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:120599200-120612800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:120599400-120609000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:120599800-120605600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:120599800-120609800	Weak transcription	Brain Angular Gyrus	brain
17	chr8:120599800-120613600	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:120599800-120614800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr8:120600000-120605400	Weak transcription	Liver	Liver
20	chr8:120600000-120610400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:120600000-120617400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr8:120600000-120618000	Weak transcription	Brain Anterior Caudate	brain
23	chr8:120600200-120609000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:120600600-120605200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr8:120601200-120608200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:120601200-120609000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:120601600-120604800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:120601600-120605200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:120601600-120609400	Weak transcription	Brain Substantia Nigra	brain
30	chr8:120601800-120606200	Strong transcription	Adipose Nuclei	Adipose
31	chr8:120601800-120610800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr8:120601800-120614600	Weak transcription	Osteobl	bone
33	chr8:120602000-120605200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:120602000-120605400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:120602000-120613400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:120602000-120614000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:120602000-120627000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:120602200-120606200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:120602800-120612400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr8:120603000-120613200	Strong transcription	NHDF-Ad	bronchial
41	chr8:120603400-120607600	Weak transcription	Placenta	Placenta
42	chr8:120603600-120606000	Strong transcription	Fetal Lung	lung
43	chr8:120603600-120608200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:120604600-120605200	Enhancers	Monocytes-CD14+_RO01746	blood

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