Variant report

Variant	rs62567738
Chromosome Location	chr9:110044551-110044552
allele	A/G
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	GATA1	chr9:110044393-110046235	PBDE	blood:	n/a	n/a
2	EP300	chr9:110044524-110045951	GM12878	blood:	n/a	chr9:110045860-110045876 chr9:110045458-110045467
3	POLR2A	chr9:110044546-110046424	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr9:110044523-110046420	HCT-116	colon:	n/a	n/a
5	POLR2A	chr9:110044257-110047284	HepG2	liver:	n/a	n/a
6	POLR2A	chr9:110044533-110046540	PBDE	blood:	n/a	n/a
7	MXI1	chr9:110044294-110047293	IMR90	lung:	n/a	n/a
8	POLR2A	chr9:110044496-110046761	K562	blood:	n/a	n/a
9	POLR2A	chr9:110042878-110046762	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr9:110044361-110047198	GM12891	blood:	n/a	n/a
11	TBL1XR1	chr9:110044490-110047918	GM12878	blood:	n/a	n/a
12	FOXA1	chr9:110044490-110044672	T-47D	breast:	n/a	n/a
13	POLR2A	chr9:110044469-110044553	HepG2	liver:	n/a	n/a
14	POLR2A	chr9:110044427-110047255	GM12878	blood:	n/a	n/a
15	POLR2A	chr9:110044401-110046994	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110042843..110044728-chr9:110074492..110076234,2	K562	blood:
2	chr9:110044300..110048942-chr9:110067094..110074281,11	MCF-7	breast:

Variant related genes	Relation type
RAD23B	TF binding region
ENSG00000119318	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10978789	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10978793	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11573631	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11573652	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11573655	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11573700	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12001235	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12001425	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12005299	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12005522	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16912372	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17724694	0.93[EUR][1000 genomes]
rs56091145	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62567660	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62567661	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62567691	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62567693	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62567694	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62567696	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62567704	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73668766	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73668780	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7859324	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv831682	chr9:109937181-110075453	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv893698	chr9:109998563-110052660	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv508560	chr9:110006490-110060539	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:110035600-110044600	Enhancers	Placenta	Placenta
2	chr9:110040400-110044600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:110040400-110044600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr9:110040400-110044600	Weak transcription	Fetal Stomach	stomach
5	chr9:110042200-110044600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:110042200-110044600	Enhancers	HMEC	breast
7	chr9:110042600-110044600	Enhancers	Fetal Intestine Large	intestine
8	chr9:110042800-110044800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:110043000-110044600	Enhancers	Primary B cells from peripheral blood	blood
10	chr9:110043000-110044600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr9:110043000-110044800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:110043400-110044600	Weak transcription	Psoas Muscle	Psoas
13	chr9:110043400-110045200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr9:110043600-110045000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr9:110043800-110044600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr9:110044000-110044600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr9:110044000-110044600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr9:110044000-110044600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:110044000-110044600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:110044000-110044600	Enhancers	Brain Germinal Matrix	brain
21	chr9:110044000-110044600	Enhancers	HSMM	muscle
22	chr9:110044200-110044600	Enhancers	Fetal Thymus	thymus
23	chr9:110044200-110044600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr9:110044200-110044600	Enhancers	Hela-S3	cervix
25	chr9:110044200-110044600	Flanking Active TSS	HepG2	liver
26	chr9:110044200-110044600	Enhancers	HSMMtube	muscle
27	chr9:110044200-110044800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:110044200-110044800	Enhancers	Placenta Amnion	Placenta Amnion
29	chr9:110044200-110045000	Flanking Active TSS	Liver	Liver
30	chr9:110044200-110047600	Active TSS	Thymus	Thymus
31	chr9:110044200-110048200	Active TSS	H1 Cell Line	embryonic stem cell
32	chr9:110044400-110044600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr9:110044400-110044600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:110044400-110044600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr9:110044400-110044600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr9:110044400-110044600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr9:110044400-110044600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr9:110044400-110044600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr9:110044400-110044600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr9:110044400-110044600	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr9:110044400-110044600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr9:110044400-110044600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:110044400-110044600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:110044400-110044600	Enhancers	Adipose Nuclei	Adipose
45	chr9:110044400-110044600	Enhancers	Brain Angular Gyrus	brain
46	chr9:110044400-110044600	Enhancers	Brain Cingulate Gyrus	brain
47	chr9:110044400-110044600	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr9:110044400-110044600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr9:110044400-110044600	Enhancers	Brain Substantia Nigra	brain
50	chr9:110044400-110044600	Enhancers	Colonic Mucosa	Colon

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