Variant report

Variant	rs4744932
Chromosome Location	chr9:72288946-72288947
allele	G/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	KAP1	chr9:72288743-72289751	U2OS	brain:	n/a	n/a
2	KAP1	chr9:72288861-72289748	HEK293	kidney:	n/a	n/a
3	SETDB1	chr9:72288724-72288975	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72287056..72289421-chr9:72373634..72375235,2	MCF-7	breast:
2	chr9:72286195..72289118-chr9:72373474..72376010,3	MCF-7	breast:

Variant related genes	Relation type
APBA1	TF binding region
ENSG00000188647	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10780551	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10867853	0.89[EUR][1000 genomes]
rs10867859	0.89[EUR][1000 genomes]
rs10867877	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2309517	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4629937	0.86[EUR][1000 genomes]
rs4744576	0.89[EUR][1000 genomes]
rs4744928	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6559671	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv3389299	chr9:72286157-72289005	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72288000-72289200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:72288400-72289000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:72288400-72289000	Enhancers	Esophagus	oesophagus
4	chr9:72288400-72289000	Enhancers	Fetal Muscle Trunk	muscle
5	chr9:72288400-72289200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:72288400-72289200	Enhancers	NHEK	skin
7	chr9:72288400-72289400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr9:72288400-72289400	Weak transcription	Fetal Kidney	kidney
9	chr9:72288400-72289400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr9:72288400-72289600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:72288400-72289600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:72288400-72289600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:72288400-72289600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:72288400-72289600	Enhancers	Fetal Lung	lung
15	chr9:72288400-72289600	Weak transcription	Gastric	stomach
16	chr9:72288400-72289800	Weak transcription	HSMMtube	muscle
17	chr9:72288400-72289800	Weak transcription	NHLF	lung
18	chr9:72288400-72290000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr9:72288400-72290200	Weak transcription	HSMM	muscle
20	chr9:72288400-72290400	Enhancers	Primary hematopoietic stem cells	blood
21	chr9:72288400-72290400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr9:72288400-72290400	Enhancers	Fetal Muscle Leg	muscle
23	chr9:72288400-72290400	Enhancers	HUVEC	blood vessel
24	chr9:72288400-72290600	Enhancers	Primary T cells from cord blood	blood
25	chr9:72288400-72290600	Enhancers	Fetal Stomach	stomach
26	chr9:72288400-72290800	Enhancers	Placenta	Placenta
27	chr9:72288400-72290800	Enhancers	NHDF-Ad	bronchial
28	chr9:72288400-72291000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr9:72288400-72291000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr9:72288400-72291000	Enhancers	HMEC	breast
31	chr9:72288600-72289000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:72288600-72289000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:72288600-72289000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:72288600-72289000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr9:72288600-72289000	Enhancers	Brain Hippocampus Middle	brain
36	chr9:72288600-72289000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:72288600-72289000	Enhancers	Fetal Brain Male	brain
38	chr9:72288600-72289200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr9:72288600-72289400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr9:72288600-72289400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:72288600-72289400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:72288600-72289400	Enhancers	Stomach Smooth Muscle	stomach
43	chr9:72288600-72289600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:72288600-72289600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr9:72288600-72289600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr9:72288600-72289600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr9:72288600-72289600	Enhancers	Brain Cingulate Gyrus	brain
48	chr9:72288600-72289600	Weak transcription	Colon Smooth Muscle	Colon
49	chr9:72288600-72289600	Enhancers	Ovary	ovary
50	chr9:72288600-72290200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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