Variant report

Variant	rs6983301
Chromosome Location	chr8:10916841-10916842
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10096332	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10111974	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11775350	0.90[EUR][1000 genomes]
rs11781155	0.89[ASN][1000 genomes]
rs13251510	0.98[ASN][1000 genomes]
rs28447601	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56078888	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6601554	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6997523	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7016414	0.97[ASN][1000 genomes]
rs7016760	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7815958	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7821584	0.81[ASN][1000 genomes]
rs7839902	0.86[EUR][1000 genomes];0.89[ASN][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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv3443449	chr8:10915967-10918515	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10916200-10917400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:10916400-10917000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
4	chr8:10916400-10917000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:10916400-10917000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
6	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:10916400-10917000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
11	chr8:10916400-10917200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:10916400-10917200	Active TSS	HSMM	muscle
13	chr8:10916400-10917400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:10916400-10917400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:10916400-10917400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:10916400-10917400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr8:10916400-10917400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr8:10916400-10917400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr8:10916400-10917600	Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:10916400-10917600	Active TSS	Brain Angular Gyrus	brain
21	chr8:10916400-10917600	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr8:10916400-10917800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr8:10916400-10917800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr8:10916400-10918000	Bivalent Enhancer	Fetal Brain Male	brain
25	chr8:10916600-10917000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr8:10916600-10917000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:10916600-10917000	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:10916600-10917000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr8:10916600-10917000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:10916600-10917000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr8:10916600-10917000	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr8:10916600-10917000	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr8:10916600-10917000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
34	chr8:10916600-10917000	Active TSS	Colon Smooth Muscle	Colon
35	chr8:10916600-10917000	Bivalent Enhancer	Esophagus	oesophagus
36	chr8:10916600-10917000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
37	chr8:10916600-10917000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr8:10916600-10917000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
39	chr8:10916600-10917000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
40	chr8:10916600-10917000	Flanking Active TSS	Pancreas	Pancrea
41	chr8:10916600-10917000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
42	chr8:10916600-10917000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
43	chr8:10916600-10917000	Bivalent/Poised TSS	HepG2	liver
44	chr8:10916600-10917000	Bivalent/Poised TSS	NH-A	brain
45	chr8:10916600-10917400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr8:10916600-10917400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:10916600-10917400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr8:10916600-10917400	Active TSS	Left Ventricle	heart
49	chr8:10916600-10917400	Active TSS	Right Atrium	heart
50	chr8:10916600-10917400	Flanking Active TSS	HMEC	breast

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