Variant report

Variant	rs73452911
Chromosome Location	chr9:71856927-71856928
allele	C/T
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	POLR2A	chr9:71856852-71856937	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71854349..71857071-chr9:71859863..71862039,2	MCF-7	breast:

Variant related genes	Relation type
TJP2	TF binding region
ENSG00000119139	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11138090	1.00[EUR][1000 genomes]
rs11138097	1.00[EUR][1000 genomes]
rs11138118	1.00[EUR][1000 genomes]
rs11138262	1.00[EUR][1000 genomes]
rs11138263	1.00[EUR][1000 genomes]
rs11138400	1.00[EUR][1000 genomes]
rs11138419	1.00[EUR][1000 genomes]
rs12341853	1.00[EUR][1000 genomes]
rs12343852	1.00[EUR][1000 genomes]
rs13440045	1.00[EUR][1000 genomes]
rs1890633	1.00[EUR][1000 genomes]
rs41277901	1.00[EUR][1000 genomes]
rs45534236	1.00[EUR][1000 genomes]
rs7018704	1.00[EUR][1000 genomes]
rs73450886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73450889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73450890	1.00[EUR][1000 genomes]
rs73452916	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73452956	1.00[EUR][1000 genomes]
rs7857529	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv931684	chr9:71417110-71957723	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1035823	chr9:71465139-71901672	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv466396	chr9:71471912-71935577	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv614548	chr9:71471912-71935577	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1035477	chr9:71511927-71959487	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv893416	chr9:71597840-71888601	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv893427	chr9:71762766-71858517	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv831610	chr9:71846941-72016835	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71828000-71866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr9:71828600-71857600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:71828600-71865600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr9:71828800-71874200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr9:71831400-71868000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr9:71831400-71872800	Strong transcription	Liver	Liver
7	chr9:71831600-71863200	Weak transcription	Hela-S3	cervix
8	chr9:71836400-71874000	Weak transcription	Fetal Brain Male	brain
9	chr9:71837400-71863000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:71838000-71861600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr9:71838600-71857600	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr9:71838600-71862200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:71839000-71857400	Strong transcription	HepG2	liver
14	chr9:71839000-71872600	Strong transcription	Fetal Intestine Large	intestine
15	chr9:71839600-71863400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr9:71839800-71857600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:71839800-71857800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr9:71839800-71858000	Strong transcription	Adipose Nuclei	Adipose
19	chr9:71840000-71857400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr9:71840200-71857400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:71840200-71858200	Strong transcription	Stomach Smooth Muscle	stomach
22	chr9:71840200-71858600	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr9:71840200-71870400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:71841000-71858000	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:71841400-71869800	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:71841400-71869800	Weak transcription	K562	blood
27	chr9:71843000-71862400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:71843400-71861600	Weak transcription	Primary B cells from cord blood	blood
29	chr9:71843400-71868000	Weak transcription	Dnd41	blood
30	chr9:71845200-71872000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr9:71846800-71858200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr9:71847000-71868800	Weak transcription	Small Intestine	intestine
33	chr9:71847200-71857800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr9:71847600-71871200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:71847600-71879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr9:71847800-71867800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr9:71848800-71857600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:71848800-71857800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr9:71849000-71857400	Strong transcription	Brain Hippocampus Middle	brain
40	chr9:71849000-71857600	Strong transcription	Lung	lung
41	chr9:71849000-71858000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr9:71849000-71858200	Strong transcription	Placenta	Placenta
43	chr9:71849200-71857400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr9:71849200-71857400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr9:71849600-71857000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr9:71850400-71857400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:71850800-71858000	Strong transcription	Aorta	Aorta
48	chr9:71851800-71862400	Weak transcription	Fetal Muscle Leg	muscle
49	chr9:71851800-71870800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:71852000-71876800	Weak transcription	Psoas Muscle	Psoas

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