Variant report

Variant	rs73704935
Chromosome Location	chr8:126350389-126350390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126349312..126351849-chr8:126441416..126443762,2	K562	blood:
2	chr8:126349657..126352524-chr8:126353800..126356280,3	K562	blood:
3	chr8:126348698..126351560-chr8:126363326..126365712,2	K562	blood:

Variant related genes	Relation type
ENSG00000254431	Chromatin interaction
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10088674	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10090983	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10094940	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10100523	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101223	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10104088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10105662	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10111234	1.00[EUR][1000 genomes]
rs10111261	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10111919	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10481079	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10481154	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11994181	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11996045	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28502126	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28609750	1.00[EUR][1000 genomes]
rs28620783	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28786389	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56704677	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57062304	1.00[EUR][1000 genomes]
rs58585963	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7004396	1.00[EUR][1000 genomes]
rs73704922	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704933	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73704936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73704952	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7840900	1.00[EUR][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	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126318600-126354600	Weak transcription	Ovary	ovary
2	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
3	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
4	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
7	chr8:126333000-126354200	Weak transcription	Fetal Lung	lung
8	chr8:126335600-126353200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:126336600-126354200	Weak transcription	Spleen	Spleen
10	chr8:126340000-126354200	Weak transcription	Esophagus	oesophagus
11	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:126341600-126354200	Weak transcription	Lung	lung
13	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:126342400-126355000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:126344400-126352200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
17	chr8:126344800-126353800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:126345200-126353400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:126346400-126351200	Weak transcription	Adipose Nuclei	Adipose
20	chr8:126346600-126351800	Enhancers	GM12878-XiMat	blood
21	chr8:126346800-126350800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:126346800-126351200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:126346800-126351200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr8:126346800-126351200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:126346800-126351400	Weak transcription	Brain Angular Gyrus	brain
26	chr8:126346800-126351600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:126346800-126351800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr8:126346800-126351800	Weak transcription	NH-A	brain
29	chr8:126346800-126352000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:126346800-126353000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr8:126346800-126353200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:126346800-126353400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr8:126346800-126353400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:126346800-126353800	Weak transcription	Fetal Intestine Small	intestine
35	chr8:126346800-126354200	Weak transcription	Brain Substantia Nigra	brain
36	chr8:126346800-126354200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr8:126346800-126354400	Weak transcription	Brain Anterior Caudate	brain
38	chr8:126346800-126354400	Weak transcription	Brain Hippocampus Middle	brain
39	chr8:126346800-126354400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:126346800-126354400	Weak transcription	Thymus	Thymus
41	chr8:126347000-126351400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:126347000-126351400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr8:126347000-126351400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:126347000-126351400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:126347000-126353800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:126347000-126354000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr8:126347000-126354400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:126347000-126354600	Weak transcription	Right Atrium	heart
49	chr8:126347000-126354800	Weak transcription	Fetal Muscle Leg	muscle
50	chr8:126347400-126351400	Weak transcription	Placenta	Placenta

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