Variant report

Variant	rs73257062
Chromosome Location	chr8:87457239-87457240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10090107	0.88[EUR][1000 genomes]
rs10101337	0.88[EUR][1000 genomes]
rs10101658	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106735	0.88[EUR][1000 genomes]
rs10107469	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16907490	0.88[EUR][1000 genomes]
rs16911667	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16912199	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16914543	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs28446298	0.88[EUR][1000 genomes]
rs28504305	0.88[EUR][1000 genomes]
rs28801137	0.88[EUR][1000 genomes]
rs3916649	0.88[EUR][1000 genomes]
rs56280479	0.88[EUR][1000 genomes]
rs60177164	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61661701	0.88[EUR][1000 genomes]
rs7012745	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73254743	0.88[EUR][1000 genomes]
rs73254771	1.00[EUR][1000 genomes]
rs73271003	0.88[EUR][1000 genomes]
rs73273124	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73688826	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7461904	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7464360	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812422	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7839610	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7841007	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7841939	0.88[EUR][1000 genomes]
rs9656826	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:87428600-87460800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:87436800-87483200	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr8:87437400-87457800	Strong transcription	Fetal Thymus	thymus
5	chr8:87437400-87458000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:87437400-87458000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:87437400-87458200	Strong transcription	Placenta	Placenta
8	chr8:87437400-87482800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:87437800-87489600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr8:87438000-87457800	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr8:87441800-87507600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:87442800-87475600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:87443000-87478800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:87443400-87457800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:87443600-87457600	Strong transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:87443600-87458200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:87443600-87458200	Strong transcription	HepG2	liver
18	chr8:87443600-87459400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:87444400-87488800	Weak transcription	NHLF	lung
20	chr8:87445800-87461000	Weak transcription	Small Intestine	intestine
21	chr8:87446800-87458200	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr8:87446800-87458600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr8:87447200-87461000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:87447200-87476800	Weak transcription	Gastric	stomach
25	chr8:87447200-87476800	Weak transcription	Spleen	Spleen
26	chr8:87447600-87458000	Strong transcription	Fetal Intestine Large	intestine
27	chr8:87448200-87460800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:87448400-87460600	Weak transcription	Hela-S3	cervix
29	chr8:87448400-87476800	Weak transcription	Aorta	Aorta
30	chr8:87448800-87460600	Weak transcription	HUVEC	blood vessel
31	chr8:87448800-87481400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:87448800-87502800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:87449200-87460800	Weak transcription	K562	blood
34	chr8:87449400-87460800	Weak transcription	Colonic Mucosa	Colon
35	chr8:87449400-87476800	Weak transcription	Lung	lung
36	chr8:87449600-87458000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:87449600-87480800	Weak transcription	Right Ventricle	heart
38	chr8:87451600-87477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:87451800-87457800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr8:87451800-87459600	Weak transcription	Fetal Intestine Small	intestine
41	chr8:87451800-87459600	Weak transcription	Fetal Stomach	stomach
42	chr8:87451800-87485400	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr8:87452000-87472800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:87452400-87458000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr8:87452400-87460000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:87452800-87458000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:87452800-87458000	Strong transcription	Dnd41	blood
48	chr8:87452800-87459000	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:87453000-87457800	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:87453200-87457800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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