Variant report

Variant	rs72475823
Chromosome Location	chr8:27369733-27369734
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:27369730-27370811	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:27367822..27370761-chr8:27376715..27378442,2	K562	blood:
2	chr8:27368718..27372852-chr8:27373164..27375830,3	K562	blood:
3	chr8:27362707..27366209-chr8:27367231..27371421,6	K562	blood:
4	chr8:27358695..27360255-chr8:27369222..27371257,2	K562	blood:

Variant related genes	Relation type
EPHX2	TF binding region

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs56187906	0.84[AFR][1000 genomes]
rs57442348	1.00[AFR][1000 genomes]
rs59338093	0.90[AFR][1000 genomes]
rs59365325	1.00[AFR][1000 genomes]
rs59683646	0.90[AFR][1000 genomes]
rs60257378	0.90[AFR][1000 genomes]
rs60319016	0.97[AFR][1000 genomes]
rs60709011	0.90[AFR][1000 genomes]
rs61586133	1.00[AFR][1000 genomes]
rs6558001	0.93[AFR][1000 genomes]
rs6995058	0.90[AFR][1000 genomes]
rs7006736	0.87[AFR][1000 genomes]
rs7017595	0.90[AFR][1000 genomes]
rs72475804	0.90[AFR][1000 genomes]
rs72475805	0.84[AFR][1000 genomes]
rs72475825	1.00[AFR][1000 genomes]
rs72475857	0.90[AFR][1000 genomes]
rs72475878	0.90[AFR][1000 genomes]
rs72475879	0.90[AFR][1000 genomes]
rs72475898	0.90[AFR][1000 genomes]
rs72477587	0.84[AFR][1000 genomes]
rs72477588	0.84[AFR][1000 genomes]
rs72478904	0.84[AFR][1000 genomes]
rs73679204	0.87[AFR][1000 genomes]
rs73679208	0.87[AFR][1000 genomes]
rs7819348	0.90[AFR][1000 genomes]
rs7838218	1.00[AFR][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	nsv1020582	chr8:27309768-27406844	Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1019182	chr8:27314836-27398162	Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv831275	chr8:27328290-27481605	Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:27349200-27372000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:27349200-27372200	Weak transcription	Right Atrium	heart
3	chr8:27355200-27372200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:27356200-27370600	Strong transcription	Duodenum Mucosa	Duodenum
5	chr8:27357000-27372200	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr8:27357200-27371000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr8:27357200-27371400	Strong transcription	Stomach Smooth Muscle	stomach
8	chr8:27358400-27369800	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:27358400-27371600	Strong transcription	Fetal Thymus	thymus
10	chr8:27358400-27372600	Strong transcription	Primary T cells from cord blood	blood
11	chr8:27358400-27380000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr8:27358600-27372200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:27358800-27370200	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr8:27358800-27371200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:27359000-27370400	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr8:27359000-27370800	Strong transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:27359400-27402400	Weak transcription	Fetal Brain Male	brain
18	chr8:27359600-27372400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr8:27359800-27373400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:27360000-27372000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:27361000-27372200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:27362000-27372600	Weak transcription	Placenta	Placenta
23	chr8:27362200-27402800	Weak transcription	Fetal Heart	heart
24	chr8:27362800-27372600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr8:27362800-27405200	Weak transcription	Psoas Muscle	Psoas
26	chr8:27363400-27369800	Strong transcription	HepG2	liver
27	chr8:27363400-27371200	Strong transcription	Fetal Intestine Large	intestine
28	chr8:27363400-27372200	Strong transcription	Liver	Liver
29	chr8:27364800-27394200	Weak transcription	Small Intestine	intestine
30	chr8:27365000-27373200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr8:27365000-27391600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr8:27365000-27393200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr8:27365200-27371800	Strong transcription	Thymus	Thymus
34	chr8:27365200-27372000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:27365200-27372000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr8:27365200-27372200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:27365200-27372400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:27365200-27373200	Weak transcription	Brain Substantia Nigra	brain
39	chr8:27365200-27376600	Weak transcription	Brain Angular Gyrus	brain
40	chr8:27365600-27372200	Weak transcription	Spleen	Spleen
41	chr8:27365600-27372600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:27365600-27373200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:27365600-27373200	Weak transcription	Brain Hippocampus Middle	brain
44	chr8:27365600-27373600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:27365600-27373800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:27365600-27374000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:27365600-27395600	Weak transcription	Gastric	stomach
48	chr8:27365800-27372400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr8:27365800-27376600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr8:27365800-27382800	Weak transcription	Colon Smooth Muscle	Colon

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