Variant report

Variant	rs73309549
Chromosome Location	chr7:18537893-18537894
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	EP300	chr7:18533159-18540304	SK-N-SH	brain:	n/a	chr7:18533882-18533891 chr7:18539770-18539777 chr7:18534979-18534993 chr7:18534489-18534503 chr7:18536954-18536964 chr7:18534984-18534998 chr7:18538576-18538586 chr7:18534027-18534041
2	FOXA1	chr7:18537334-18537898	T-47D	breast:	n/a	chr7:18537762-18537774 chr7:18537781-18537793
3	MXI1	chr7:18533762-18538995	SK-N-SH	brain:	n/a	n/a
4	JUND	chr7:18537406-18538022	T-47D	breast:	n/a	n/a
5	GATA3	chr7:18537321-18538136	T-47D	breast:	n/a	n/a
6	EP300	chr7:18537296-18537906	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
HDAC9	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1035836	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1365892	1.00[AMR][1000 genomes]
rs1405616	1.00[AMR][1000 genomes]
rs1469364	1.00[AMR][1000 genomes]
rs1559952	1.00[AMR][1000 genomes]
rs2114727	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs213266	1.00[AMR][1000 genomes]
rs213267	1.00[AMR][1000 genomes]
rs213268	1.00[AMR][1000 genomes]
rs213269	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs213277	1.00[AMR][1000 genomes]
rs2704288	1.00[AMR][1000 genomes]
rs35476249	1.00[AMR][1000 genomes]
rs58844869	1.00[AMR][1000 genomes]
rs801757	1.00[AMR][1000 genomes]

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	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2755157	chr7:18337660-18805860	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18534400-18539200	Active TSS	Aorta	Aorta
2	chr7:18534600-18538000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr7:18534600-18538000	Active TSS	Fetal Brain Male	brain
4	chr7:18534600-18538000	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr7:18534600-18538800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:18534800-18538000	Active TSS	Brain Angular Gyrus	brain
7	chr7:18534800-18538000	Active TSS	Brain Cingulate Gyrus	brain
8	chr7:18534800-18538000	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr7:18534800-18538200	Active TSS	Fetal Muscle Trunk	muscle
10	chr7:18534800-18538800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:18535000-18538200	Active TSS	Brain Germinal Matrix	brain
12	chr7:18535000-18538200	Active TSS	Brain Substantia Nigra	brain
13	chr7:18535000-18538200	Active TSS	Left Ventricle	heart
14	chr7:18535000-18538400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:18535000-18538600	Active TSS	Duodenum Mucosa	Duodenum
16	chr7:18535600-18538000	Active TSS	Fetal Muscle Leg	muscle
17	chr7:18535800-18542800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr7:18536000-18538000	Weak transcription	Gastric	stomach
19	chr7:18536000-18538400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:18536000-18540800	Weak transcription	HUVEC	blood vessel
21	chr7:18536000-18548200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr7:18536200-18538200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:18536200-18548600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:18536400-18539000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:18536400-18539000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:18536400-18541600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:18536400-18541600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:18536600-18538200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:18536600-18538400	Flanking Active TSS	Fetal Heart	heart
30	chr7:18537000-18538000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:18537000-18538000	Weak transcription	Right Ventricle	heart
32	chr7:18537000-18538200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:18537000-18538200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:18537000-18538400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr7:18537000-18538400	Active TSS	HSMMtube	muscle
36	chr7:18537000-18538600	Active TSS	GM12878-XiMat	blood
37	chr7:18537000-18538800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:18537000-18539200	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr7:18537000-18539600	Weak transcription	Fetal Kidney	kidney
40	chr7:18537000-18542800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr7:18537000-18544600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:18537000-18545200	Weak transcription	NH-A	brain
43	chr7:18537000-18548000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:18537200-18538600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:18537400-18538400	Enhancers	H9 Cell Line	embryonic stem cell
46	chr7:18537400-18538400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:18537400-18538400	Enhancers	Psoas Muscle	Psoas
48	chr7:18537400-18538600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr7:18537400-18538800	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr7:18537600-18538000	Enhancers	HUES48 Cell Line	embryonic stem cell

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