Variant report

Variant	rs2572401
Chromosome Location	chr8:11183704-11183705
allele	A/C
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	chr8:11183643-11183723	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11170423..11173089-chr8:11183633..11185692,2	K562	blood:

Variant related genes	Relation type
SLC35G5	TF binding region
ENSG00000246477	TF binding region

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1036383	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11250126	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12545783	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549648	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545073	0.81[ASN][1000 genomes]
rs17153128	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2293854	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2409755	0.89[ASN][1000 genomes]
rs2572403	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2736258	0.89[ASN][1000 genomes]
rs2736261	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2736262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35367123	0.82[EUR][1000 genomes]
rs3808501	0.95[EUR][1000 genomes]
rs3808516	0.93[EUR][1000 genomes]
rs4515509	0.87[ASN][1000 genomes]
rs4840558	0.82[EUR][1000 genomes]
rs4841520	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4841522	0.82[EUR][1000 genomes]
rs4841523	0.82[EUR][1000 genomes]
rs61762306	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs956662	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv1821756	chr8:11169178-11217587	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv971285	chr8:11181086-11184863	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11154200-11183800	Strong transcription	Liver	Liver
2	chr8:11155000-11184000	Strong transcription	Dnd41	blood
3	chr8:11162400-11183800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:11162400-11184000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr8:11162400-11184000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr8:11162400-11184200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:11162600-11184000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:11167400-11185200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:11167800-11184600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:11170600-11185400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:11170800-11183800	Strong transcription	Primary hematopoietic stem cells	blood
12	chr8:11171000-11184200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:11171000-11184200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:11171600-11191400	Weak transcription	Psoas Muscle	Psoas
15	chr8:11174000-11183800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:11175400-11185000	Weak transcription	Small Intestine	intestine
17	chr8:11175800-11183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:11176000-11184200	Weak transcription	Right Ventricle	heart
19	chr8:11176000-11184400	Weak transcription	K562	blood
20	chr8:11176000-11185600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:11176000-11187800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr8:11176000-11189000	Weak transcription	Gastric	stomach
23	chr8:11176600-11187000	Weak transcription	Colonic Mucosa	Colon
24	chr8:11177400-11184400	Weak transcription	NHLF	lung
25	chr8:11177800-11184400	Weak transcription	Fetal Brain Male	brain
26	chr8:11177800-11185000	Weak transcription	NH-A	brain
27	chr8:11178200-11186000	Weak transcription	Fetal Intestine Small	intestine
28	chr8:11178200-11186400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:11178600-11186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:11178800-11186200	Weak transcription	Fetal Heart	heart
31	chr8:11179000-11183800	Weak transcription	Pancreas	Pancrea
32	chr8:11179000-11184000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:11179000-11185400	Weak transcription	Fetal Lung	lung
34	chr8:11179400-11184000	Weak transcription	Fetal Kidney	kidney
35	chr8:11179400-11187600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:11179600-11186200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr8:11179800-11186400	Weak transcription	Brain Germinal Matrix	brain
38	chr8:11179800-11188000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:11180400-11184200	Weak transcription	HSMMtube	muscle
40	chr8:11180400-11185000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:11180400-11185000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:11180600-11184600	Weak transcription	Brain Substantia Nigra	brain
43	chr8:11180600-11185200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:11180600-11185400	Weak transcription	Brain Angular Gyrus	brain
45	chr8:11180600-11185800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr8:11180600-11185800	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:11180600-11186000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:11180600-11187000	Weak transcription	Lung	lung
49	chr8:11180600-11190200	Weak transcription	A549	lung
50	chr8:11180800-11184400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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