Variant report

Variant	rs525812
Chromosome Location	chr17:38575292-38575293
allele	C/G
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:6)
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	POLR2A	chr17:38575243-38575330	MCF-7	breast:	n/a	n/a
2	POLR2A	chr17:38575099-38575322	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:
2	chr17:38519063..38522724-chr17:38572084..38575827,4	K562	blood:
3	chr17:38472434..38475174-chr17:38574466..38576068,2	MCF-7	breast:
4	chr17:38573492..38575865-chr17:38596037..38598385,2	K562	blood:
5	chr17:38571221..38576195-chr17:38597437..38603899,8	K562	blood:
6	chr17:38518117..38522815-chr17:38572084..38576075,6	K562	blood:

No data

Variant related genes	Relation type
TOP2A	TF binding region
ENSG00000240125	Chromatin interaction
ENSG00000141753	Chromatin interaction
ENSG00000183153	Chromatin interaction
ENSG00000131759	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1530363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16965783	0.87[CEU][hapmap];0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2586112	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2715556	0.87[CEU][hapmap]
rs2715557	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs471692	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs473198	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474510	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs495511	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs505633	0.86[AMR][1000 genomes]
rs506728	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs507564	0.93[EUR][1000 genomes]
rs525217	0.93[EUR][1000 genomes]
rs528045	0.95[EUR][1000 genomes]
rs532299	0.87[AMR][1000 genomes]
rs552857	0.92[EUR][1000 genomes]
rs557498	0.92[EUR][1000 genomes]
rs558068	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62066565	0.88[EUR][1000 genomes];0.96[ASN][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	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38573800-38576000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr17:38574400-38576600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:38574400-38576600	Flanking Active TSS	HepG2	liver
4	chr17:38574600-38576200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:38574800-38575400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr17:38574800-38575400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr17:38574800-38575800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr17:38574800-38575800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr17:38574800-38575800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr17:38574800-38575800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:38574800-38575800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:38574800-38575800	Weak transcription	Liver	Liver
13	chr17:38574800-38576000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr17:38574800-38576000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr17:38574800-38576000	Enhancers	Primary B cells from cord blood	blood
16	chr17:38574800-38576000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr17:38574800-38576000	Enhancers	GM12878-XiMat	blood
18	chr17:38574800-38576200	Weak transcription	Right Ventricle	heart
19	chr17:38574800-38576400	Enhancers	HUVEC	blood vessel
20	chr17:38574800-38576600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:38574800-38576600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:38574800-38576600	Enhancers	Lung	lung
23	chr17:38574800-38576800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:38574800-38577800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr17:38574800-38577800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr17:38574800-38578000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr17:38574800-38578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr17:38574800-38579400	Weak transcription	K562	blood
29	chr17:38574800-38579600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr17:38574800-38580800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr17:38575000-38575400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:38575000-38575400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr17:38575000-38575400	Active TSS	Muscle Satellite Cultured Cells	--
34	chr17:38575000-38575400	Enhancers	Fetal Muscle Leg	muscle
35	chr17:38575000-38575400	Enhancers	Placenta	Placenta
36	chr17:38575000-38575400	Enhancers	Fetal Stomach	stomach
37	chr17:38575000-38575400	Enhancers	Stomach Smooth Muscle	stomach
38	chr17:38575000-38575400	Enhancers	Dnd41	blood
39	chr17:38575000-38575400	Active TSS	HSMM	muscle
40	chr17:38575000-38575600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr17:38575000-38575600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr17:38575000-38575800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:38575000-38575800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr17:38575000-38575800	Weak transcription	Colon Smooth Muscle	Colon
45	chr17:38575000-38575800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr17:38575000-38575800	Weak transcription	Fetal Lung	lung
47	chr17:38575000-38575800	Weak transcription	Thymus	Thymus
48	chr17:38575000-38576000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr17:38575000-38576000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr17:38575000-38576000	Enhancers	Skeletal Muscle Male	skeletal muscle

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