Variant report

Variant	rs10816473
Chromosome Location	chr9:110004294-110004295
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:110000595..110013733-chr9:110042800..110048700,27	MCF-7	breast:
2	chr9:109999870..110001713-chr9:110004205..110007979,4	K562	blood:

Variant related genes	Relation type
ENSG00000119318	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10739232	0.83[ASN][1000 genomes]
rs10759219	0.83[ASN][1000 genomes]
rs10759220	0.83[ASN][1000 genomes]
rs10759221	0.83[ASN][1000 genomes]
rs10816474	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10816477	0.84[AMR][1000 genomes]
rs10978766	0.83[ASN][1000 genomes]
rs10978767	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10978769	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10978770	0.83[ASN][1000 genomes]
rs10978775	0.80[AMR][1000 genomes]
rs12342066	0.80[AMR][1000 genomes]
rs1519049	0.81[AMR][1000 genomes]
rs1519050	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1535766	0.83[ASN][1000 genomes]
rs1535767	0.88[ASN][1000 genomes]
rs2808362	0.84[AMR][1000 genomes]
rs2808363	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2808365	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7852259	0.83[ASN][1000 genomes]
rs7852295	0.83[ASN][1000 genomes]
rs7861304	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7866312	0.83[ASN][1000 genomes]
rs7866353	0.83[ASN][1000 genomes]
rs7866797	0.83[ASN][1000 genomes]
rs7867544	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7867706	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:109998600-110006800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:109999200-110008600	Weak transcription	Liver	Liver
3	chr9:110001800-110006000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:110002000-110005000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:110002000-110010000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:110002000-110011400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:110002400-110005000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr9:110002400-110005600	Weak transcription	HepG2	liver
9	chr9:110002400-110006000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:110002400-110006000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:110002400-110011000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:110002400-110011200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr9:110002800-110010200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:110003200-110004800	Enhancers	NHDF-Ad	bronchial
15	chr9:110003400-110010400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:110003600-110005000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr9:110003600-110010800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:110003800-110004800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:110003800-110004800	Weak transcription	HMEC	breast
20	chr9:110003800-110005400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:110003800-110006000	Weak transcription	NHLF	lung
22	chr9:110004000-110005000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:110004000-110005000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:110004000-110006400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:110004200-110004600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:110004200-110005000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr9:110004200-110005000	Weak transcription	Placenta	Placenta
28	chr9:110004200-110005800	Weak transcription	Psoas Muscle	Psoas
29	chr9:110004200-110008000	Weak transcription	Fetal Kidney	kidney
30	chr9:110004200-110011200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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