Variant report

Variant	rs11573711
Chromosome Location	chr9:110085568-110085569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110043401..110047935-chr9:110082393..110087962,7	K562	blood:

Variant related genes	Relation type
ENSG00000119318	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10868	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10978881	1.00[CHB][hapmap]
rs11573607	0.84[EUR][1000 genomes]
rs11573662	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11573665	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11573703	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11573709	1.00[JPT][hapmap];0.84[MEX][hapmap]
rs11573721	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12379885	1.00[JPT][hapmap]
rs13287251	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1805331	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34593991	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34731486	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34745099	0.84[EUR][1000 genomes]
rs35218924	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35494237	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35626978	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35865856	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36016101	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36089467	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66495692	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66539130	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67630898	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71495992	0.93[AMR][1000 genomes];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	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11573711	RAD23B	cis	brain	seeQTL
rs11573711	IKBKAP	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110058600-110098600	Weak transcription	Small Intestine	intestine
2	chr9:110061400-110094600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:110065200-110089200	Strong transcription	Fetal Thymus	thymus
4	chr9:110065600-110098600	Strong transcription	Dnd41	blood
5	chr9:110070200-110104400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:110070400-110099400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:110071400-110103000	Weak transcription	Stomach Mucosa	stomach
8	chr9:110074200-110088200	Strong transcription	Fetal Intestine Large	intestine
9	chr9:110075000-110088000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:110075200-110090600	Weak transcription	Right Ventricle	heart
11	chr9:110075200-110093400	Weak transcription	Esophagus	oesophagus
12	chr9:110076000-110089400	Strong transcription	Primary hematopoietic stem cells	blood
13	chr9:110076200-110087800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:110076800-110088200	Weak transcription	Fetal Brain Male	brain
15	chr9:110077200-110086200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:110077200-110090600	Weak transcription	Brain Germinal Matrix	brain
17	chr9:110077600-110093800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr9:110078800-110087000	Weak transcription	Fetal Intestine Small	intestine
19	chr9:110079000-110089800	Strong transcription	NH-A	brain
20	chr9:110079200-110087800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:110079200-110088200	Strong transcription	K562	blood
22	chr9:110079400-110088000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:110079400-110088600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:110079400-110097400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:110079600-110085600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr9:110079600-110085800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr9:110079600-110087000	Weak transcription	Pancreas	Pancrea
28	chr9:110079600-110088400	Strong transcription	Osteobl	bone
29	chr9:110079600-110088600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:110079600-110088600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr9:110079600-110095800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr9:110079600-110098800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:110079800-110087000	Strong transcription	A549	lung
34	chr9:110079800-110087800	Strong transcription	NHDF-Ad	bronchial
35	chr9:110079800-110088200	Strong transcription	Placenta	Placenta
36	chr9:110079800-110088400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr9:110079800-110088600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr9:110079800-110088800	Strong transcription	HMEC	breast
39	chr9:110079800-110090600	Weak transcription	Gastric	stomach
40	chr9:110079800-110094600	Weak transcription	Brain Angular Gyrus	brain
41	chr9:110079800-110097600	Strong transcription	HSMM	muscle
42	chr9:110079800-110098000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr9:110080000-110087600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr9:110080000-110096800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr9:110080200-110087200	Strong transcription	GM12878-XiMat	blood
46	chr9:110080200-110088600	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr9:110080200-110097200	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr9:110080400-110087800	Strong transcription	Fetal Lung	lung
49	chr9:110080400-110088400	Strong transcription	Adipose Nuclei	Adipose
50	chr9:110080400-110088600	Strong transcription	Fetal Kidney	kidney

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