Variant report

Variant	rs11573806
Chromosome Location	chr8:119964863-119964864
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	NFIC	chr8:119964089-119964953	ECC-1	luminal epithelium:	n/a	n/a
2	JUND	chr8:119963826-119965012	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:119964837-119965002	ProgFib	skin:	n/a	n/a
4	CTBP2	chr8:119963770-119965225	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr8:119963677-119964969	ECC-1	luminal epithelium:	n/a	chr8:119964165-119964174
6	POLR2A	chr8:119963672-119965120	GM19099	blood:	n/a	n/a
7	TCF12	chr8:119963710-119964883	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
TNFRSF11B	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11573808	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11573812	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11573813	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11573852	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs11573900	0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.90[YRI][hapmap]
rs11573902	1.00[YRI][hapmap]
rs12375328	1.00[MEX][hapmap]
rs16891771	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16891776	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1804854	1.00[MEX][hapmap]
rs4520195	1.00[MEX][hapmap]
rs7815884	1.00[MEX][hapmap]
rs7833877	0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7840679	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs882763	1.00[MEX][hapmap]

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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11573806	HDGFRP3	trans	lymphoblastoid	seeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119960600-119965000	Active TSS	Aorta	Aorta
2	chr8:119961000-119965400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:119961600-119965200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:119962200-119965400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:119962600-119965600	Bivalent/Poised TSS	Fetal Kidney	kidney
6	chr8:119963000-119965000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr8:119963000-119965000	Active TSS	Rectal Mucosa Donor 31	rectum
8	chr8:119963600-119965000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:119963600-119965000	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr8:119963600-119965000	Active TSS	GM12878-XiMat	blood
11	chr8:119963600-119965400	Active TSS	Brain Angular Gyrus	brain
12	chr8:119963800-119965000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:119963800-119965000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr8:119963800-119965000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:119963800-119965000	Active TSS	Fetal Lung	lung
16	chr8:119964000-119965000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr8:119964000-119965000	Active TSS	Right Atrium	heart
18	chr8:119964200-119965000	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr8:119964400-119965000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr8:119964400-119965000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:119964400-119965000	Flanking Active TSS	NH-A	brain
22	chr8:119964600-119965000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr8:119964600-119965000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:119964600-119965000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr8:119964600-119965000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr8:119964600-119965000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
27	chr8:119964600-119965000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:119964600-119965000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr8:119964600-119965000	Flanking Active TSS	Liver	Liver
30	chr8:119964600-119965000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr8:119964600-119965000	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr8:119964600-119965000	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr8:119964600-119965000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr8:119964600-119965000	Flanking Active TSS	Rectal Smooth Muscle	rectum
35	chr8:119964600-119965000	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr8:119964600-119965000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr8:119964600-119965000	Flanking Active TSS	HSMMtube	muscle
38	chr8:119964600-119965000	Flanking Active TSS	NHLF	lung
39	chr8:119964600-119965200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr8:119964600-119965200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:119964600-119965200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr8:119964600-119965200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr8:119964600-119965200	Flanking Active TSS	Osteobl	bone
44	chr8:119964800-119965000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr8:119964800-119965000	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
46	chr8:119964800-119965000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr8:119964800-119965000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:119964800-119965000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:119964800-119965000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
50	chr8:119964800-119965000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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