Variant report

Variant	rs11788822
Chromosome Location	chr9:101985602-101985603
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:101983199-101985664	GM12891	blood:	n/a	n/a
2	POLR2A	chr9:101983466-101985622	GM12878	blood:	n/a	n/a
3	POLR2A	chr9:101982951-101985710	GM12878	blood:	n/a	n/a
4	POLR2A	chr9:101982925-101987513	IMR90	lung:	n/a	n/a
5	POLR2A	chr9:101983972-101985630	HepG2	liver:	n/a	n/a
6	POLR2A	chr9:101983162-101985681	GM12878	blood:	n/a	n/a
7	CHD1	chr9:101982915-101985780	IMR90	lung:	n/a	n/a
8	POLR2A	chr9:101983021-101985619	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr9:101983192-101985615	GM12891	blood:	n/a	n/a
10	BHLHE40	chr9:101985180-101985930	GM12878	blood:	n/a	n/a
11	POLR2A	chr9:101983353-101985609	GM12891	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101918996..101921119-chr9:101984688..101986350,2	K562	blood:
2	chr9:101984593..101986305-chr9:102581594..102583362,2	K562	blood:
3	chr9:101982726..101986093-chr9:102580219..102583469,4	K562	blood:
4	chr9:101983887..101986630-chr9:131936174..131938909,2	MCF-7	breast:
5	chr9:101984678..101986667-chr9:101998272..102000928,3	MCF-7	breast:

No data

Variant related genes	Relation type
ALG2	TF binding region
ENSG00000268050	Chromatin interaction
ENSG00000237461	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11545137	0.86[AMR][1000 genomes]
rs12002203	0.89[ASN][1000 genomes]
rs12005715	0.89[ASN][1000 genomes]
rs16918376	0.89[ASN][1000 genomes]
rs17725470	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17725597	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17725608	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17725644	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17725679	0.89[ASN][1000 genomes]
rs17725720	0.89[ASN][1000 genomes]
rs17787503	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17787533	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17787606	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28608552	0.89[ASN][1000 genomes]
rs35626507	0.86[AMR][1000 genomes]
rs3780616	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41274646	0.86[AMR][1000 genomes]
rs41274648	0.89[AMR][1000 genomes]
rs4265241	0.89[ASN][1000 genomes]
rs4554535	0.89[ASN][1000 genomes]
rs55676416	0.89[ASN][1000 genomes]
rs58644416	0.89[ASN][1000 genomes]
rs73653775	0.89[ASN][1000 genomes]
rs7863354	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831666	chr9:101874985-102018690	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101981600-101985800	Active TSS	GM12878-XiMat	blood
2	chr9:101982000-101986000	Active TSS	Right Atrium	heart
3	chr9:101982000-101986200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:101982200-101985800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr9:101982200-101985800	Active TSS	Psoas Muscle	Psoas
6	chr9:101982400-101986000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:101982400-101986000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr9:101982400-101986000	Active TSS	Right Ventricle	heart
9	chr9:101982600-101985800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:101982600-101986000	Active TSS	HSMM	muscle
11	chr9:101982600-101986200	Active TSS	Pancreas	Pancrea
12	chr9:101983000-101985800	Active TSS	NHDF-Ad	bronchial
13	chr9:101983000-101986000	Active TSS	A549	lung
14	chr9:101983200-101985800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:101983200-101985800	Active TSS	NHEK	skin
16	chr9:101983200-101986000	Active TSS	HSMMtube	muscle
17	chr9:101983200-101986200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:101983400-101985800	Active TSS	Muscle Satellite Cultured Cells	--
19	chr9:101983400-101985800	Active TSS	Lung	lung
20	chr9:101983400-101986000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:101983400-101986000	Active TSS	NHLF	lung
22	chr9:101983600-101985800	Active TSS	Osteobl	bone
23	chr9:101984600-101985800	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr9:101984800-101985800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:101985000-101985800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr9:101985000-101985800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:101985000-101985800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:101985000-101985800	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr9:101985000-101986000	Flanking Active TSS	Liver	Liver
30	chr9:101985000-101986200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr9:101985200-101985800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:101985200-101985800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:101985200-101985800	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr9:101985200-101985800	Flanking Active TSS	Fetal Thymus	thymus
35	chr9:101985200-101985800	Flanking Active TSS	Dnd41	blood
36	chr9:101985200-101986200	Flanking Active TSS	HUVEC	blood vessel
37	chr9:101985200-101986600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr9:101985200-101987400	Enhancers	Spleen	Spleen
39	chr9:101985200-101988400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:101985200-101989600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:101985400-101985800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr9:101985400-101985800	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr9:101985400-101985800	Flanking Active TSS	NH-A	brain
44	chr9:101985400-101986000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr9:101985400-101986200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr9:101985400-101986200	Enhancers	Primary B cells from peripheral blood	blood
47	chr9:101985400-101986200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr9:101985400-101986400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr9:101985400-101986400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr9:101985400-101987000	Enhancers	Small Intestine	intestine

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