Variant report

Variant	rs6993866
Chromosome Location	chr8:61824202-61824203
allele	A/G
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:16)

rs_ID	r²[population]
rs10957168	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11780935	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11783902	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11784276	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11784344	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11784761	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11787017	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12549487	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16926569	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4314681	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61448706	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62525899	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62525901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6994028	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652539	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7840653	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61820800-61825400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr8:61821000-61826400	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr8:61821400-61826400	Enhancers	Placenta	Placenta
4	chr8:61822400-61824400	Weak transcription	Dnd41	blood
5	chr8:61822600-61824400	Enhancers	Liver	Liver
6	chr8:61822600-61824600	Enhancers	Stomach Mucosa	stomach
7	chr8:61822600-61825400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr8:61822600-61826600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:61822800-61824400	Enhancers	Colon Smooth Muscle	Colon
10	chr8:61822800-61825400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr8:61822800-61826000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:61823000-61824600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:61823000-61825200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr8:61823000-61825400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:61823000-61825600	Enhancers	Lung	lung
16	chr8:61823000-61825800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:61823000-61826600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:61823000-61830800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:61823000-61834800	Weak transcription	Pancreas	Pancrea
20	chr8:61823200-61824400	Enhancers	Brain Angular Gyrus	brain
21	chr8:61823200-61824400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr8:61823200-61824400	Enhancers	NH-A	brain
23	chr8:61823200-61824600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:61823200-61824600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:61823200-61824600	Enhancers	Osteobl	bone
26	chr8:61823200-61824800	Enhancers	Brain Anterior Caudate	brain
27	chr8:61823200-61825200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:61823200-61825400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:61823200-61825600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:61823200-61825800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:61823200-61825800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:61823200-61826000	Enhancers	Fetal Muscle Leg	muscle
33	chr8:61823200-61826200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:61823200-61826600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr8:61823200-61826600	Enhancers	Thymus	Thymus
36	chr8:61823200-61826800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:61823200-61826800	Enhancers	Small Intestine	intestine
38	chr8:61823200-61830400	Enhancers	Fetal Thymus	thymus
39	chr8:61823200-61831200	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr8:61823400-61824600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:61823400-61824600	Enhancers	Fetal Muscle Trunk	muscle
42	chr8:61823400-61824800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr8:61823400-61825400	Enhancers	HUVEC	blood vessel
44	chr8:61823400-61825600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr8:61823400-61825600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr8:61823400-61826000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr8:61823400-61826200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:61823400-61826200	Enhancers	Brain Hippocampus Middle	brain
49	chr8:61823400-61826400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr8:61823400-61826600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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