Variant report

Variant	rs7212490
Chromosome Location	chr17:67057169-67057170
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	MYC	chr17:67057149-67057349	MCF10A-Er-Src	breast:	n/a	chr17:67057206-67057217 chr17:67057205-67057220 chr17:67057203-67057218
2	USF1	chr17:67057055-67057344	SK-N-SH_RA	brain:	n/a	n/a
3	SIN3AK20	chr17:67057121-67057380	PFSK-1	brain:	n/a	n/a
4	EBF1	chr17:67057038-67057256	GM12878	blood:	n/a	chr17:67057156-67057167
5	EBF1	chr17:67056990-67057299	GM12878	blood:	n/a	chr17:67057156-67057167

Variant related genes	Relation type
ABCA9	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1024668	0.82[EUR][1000 genomes]
rs1024669	0.84[EUR][1000 genomes]
rs1055448	0.91[EUR][1000 genomes]
rs11077910	0.88[EUR][1000 genomes]
rs11650025	0.88[EUR][1000 genomes]
rs1541469	0.87[GIH][hapmap]
rs16967340	1.00[GIH][hapmap]
rs1860447	1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs1860448	0.82[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs1984722	0.87[GIH][hapmap]
rs2041320	0.82[CEU][hapmap];0.97[EUR][1000 genomes]
rs2098104	0.88[AFR][1000 genomes]
rs2159434	0.84[EUR][1000 genomes]
rs2364313	0.90[AMR][1000 genomes]
rs2364314	0.88[EUR][1000 genomes]
rs4968831	0.91[EUR][1000 genomes]
rs4968989	0.82[CEU][hapmap];0.97[EUR][1000 genomes]
rs4968990	0.84[EUR][1000 genomes]
rs4968994	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6501957	1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs7210174	0.84[EUR][1000 genomes]
rs7221250	0.87[GIH][hapmap]
rs732010	1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs8070147	0.87[GIH][hapmap]
rs9284343	0.85[EUR][1000 genomes]
rs9902504	0.89[EUR][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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67041400-67072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr17:67044400-67057200	Weak transcription	Fetal Lung	lung
3	chr17:67048400-67057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:67053800-67066800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr17:67055400-67057200	Enhancers	Fetal Kidney	kidney
6	chr17:67055400-67058000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr17:67055400-67058000	Enhancers	Brain Substantia Nigra	brain
8	chr17:67055600-67057800	Enhancers	Brain Germinal Matrix	brain
9	chr17:67055600-67058000	Enhancers	Brain Anterior Caudate	brain
10	chr17:67055800-67057200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr17:67055800-67057600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr17:67055800-67057600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:67056000-67058200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr17:67056200-67057200	Weak transcription	Fetal Stomach	stomach
15	chr17:67056200-67057200	Active TSS	Ovary	ovary
16	chr17:67056200-67058000	Enhancers	Osteobl	bone
17	chr17:67056200-67058200	Enhancers	Brain Hippocampus Middle	brain
18	chr17:67056200-67075200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr17:67056600-67057200	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr17:67056600-67057800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:67056600-67058000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:67056800-67057400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr17:67056800-67057400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr17:67056800-67057800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:67056800-67058200	Enhancers	Brain Angular Gyrus	brain
26	chr17:67056800-67058200	Enhancers	Brain Cingulate Gyrus	brain
27	chr17:67057000-67057200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:67057000-67057200	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr17:67057000-67057200	Active TSS	Right Atrium	heart
30	chr17:67057000-67057400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr17:67057000-67057400	Enhancers	GM12878-XiMat	blood
32	chr17:67057000-67057400	Enhancers	HUVEC	blood vessel
33	chr17:67057000-67058000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:67057000-67058200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:67057000-67058400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr17:67057000-67058600	Enhancers	NHDF-Ad	bronchial
37	chr17:67057000-67062400	Weak transcription	Fetal Muscle Leg	muscle

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