Variant report

Variant	rs72709612
Chromosome Location	chr9:33452272-33452273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:33452260-33452410	Caco-2	colon:	n/a	n/a
2	CTCF	chr9:33452194-33453874	SK-N-SH	brain:	n/a	chr9:33452947-33452963 chr9:33452946-33452964

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:33427334..33429240-chr9:33450993..33453602,3	MCF-7	breast:
2	chr9:33415569..33418478-chr9:33451890..33454369,3	K562	blood:
3	chr9:33289017..33292006-chr9:33451413..33454547,4	MCF-7	breast:
4	chr9:33441205..33443864-chr9:33451579..33453600,2	K562	blood:
5	chr9:33451478..33453871-chr9:33472607..33474241,2	MCF-7	breast:
6	chr9:33414431..33416179-chr9:33450157..33453140,2	MCF-7	breast:
7	chr9:33441917..33447093-chr9:33451326..33454674,9	MCF-7	breast:
8	chr9:33447875..33449818-chr9:33451543..33453159,3	MCF-7	breast:
9	chr9:33409360..33412415-chr9:33451784..33455665,3	MCF-7	breast:
10	chr9:33451036..33455029-chr9:33455226..33460019,8	MCF-7	breast:

No data

Variant related genes	Relation type
AQP3	TF binding region
ENSG00000270542	Chromatin interaction
ENSG00000165272	Chromatin interaction
ENSG00000086102	Chromatin interaction
ENSG00000165271	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs35141650	0.90[AFR][1000 genomes]
rs35806926	0.84[AFR][1000 genomes]
rs3860990	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56108788	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57867764	0.83[EUR][1000 genomes]
rs7022355	0.84[EUR][1000 genomes]
rs72709610	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72709611	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72709613	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72709621	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72709624	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72709629	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72709632	0.87[EUR][1000 genomes]
rs72709635	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024207	chr9:33296368-33574892	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1024571	chr9:33380148-33468682	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
3	esv1846775	chr9:33380722-33464665	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv1015928	chr9:33386067-33468682	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv466380	chr9:33434931-33453638	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv614147	chr9:33434931-33453638	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
7	nsv516500	chr9:33434931-33466859	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:33447600-33452800	Weak transcription	Small Intestine	intestine
2	chr9:33448200-33452400	Weak transcription	HUVEC	blood vessel
3	chr9:33448200-33452800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:33448200-33461800	Weak transcription	Right Ventricle	heart
5	chr9:33448400-33452400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:33448400-33452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:33448400-33452400	Weak transcription	Stomach Mucosa	stomach
8	chr9:33448400-33452400	Weak transcription	K562	blood
9	chr9:33448400-33452600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr9:33448400-33452600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr9:33448400-33452600	Weak transcription	Fetal Heart	heart
12	chr9:33448400-33452600	Weak transcription	Placenta	Placenta
13	chr9:33448400-33452600	Weak transcription	Lung	lung
14	chr9:33448400-33452600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr9:33448400-33452800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr9:33448400-33452800	Weak transcription	HSMMtube	muscle
17	chr9:33448400-33453000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr9:33448400-33453000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:33448400-33458200	Weak transcription	Gastric	stomach
20	chr9:33448400-33460200	Weak transcription	Brain Anterior Caudate	brain
21	chr9:33448400-33460200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr9:33448400-33460800	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:33448400-33460800	Weak transcription	Left Ventricle	heart
24	chr9:33448400-33473000	Weak transcription	Right Atrium	heart
25	chr9:33448600-33452400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr9:33448600-33452400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr9:33448600-33452600	Weak transcription	HSMM	muscle
28	chr9:33448600-33452800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr9:33448600-33452800	Weak transcription	GM12878-XiMat	blood
30	chr9:33448600-33453000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr9:33448600-33455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:33448600-33458200	Weak transcription	Pancreas	Pancrea
33	chr9:33448600-33460200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:33448600-33460600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr9:33448800-33452400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr9:33448800-33452400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr9:33448800-33453200	Weak transcription	Liver	Liver
38	chr9:33448800-33460800	Weak transcription	Dnd41	blood
39	chr9:33449000-33452400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:33449000-33452400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr9:33449000-33452400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr9:33449000-33452600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr9:33449200-33452400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr9:33449200-33452600	Weak transcription	Spleen	Spleen
45	chr9:33449400-33452400	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr9:33449400-33452400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr9:33449400-33452800	Weak transcription	Adipose Nuclei	Adipose
48	chr9:33449400-33453000	Enhancers	Fetal Thymus	thymus
49	chr9:33449600-33453000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:33449800-33452800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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