Variant report

Variant	rs539010062
Chromosome Location	chr17:45222174-45222175
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	POLR2A	chr17:45222102-45222197	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:45215729..45220383-chr17:45221997..45225323,4	MCF-7	breast:
2	chr17:45201078..45204476-chr17:45221979..45225273,3	K562	blood:
3	chr17:45221635..45223977-chr17:45273349..45275137,2	K562	blood:

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1796833	chr17:45212898-45244822	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv3365602	chr17:45214397-45234526	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv960498	chr17:45218734-45237019	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	esv3391514	chr17:45219677-45229261	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	esv8272	chr17:45219757-45232073	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv3323498	chr17:45221212-45229280	Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	esv3325465	chr17:45221246-45229257	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv3402949	chr17:45221263-45232118	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv3334172	chr17:45221292-45232146	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45194800-45234200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:45214800-45234200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:45214800-45234200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr17:45215200-45229400	Strong transcription	Brain Germinal Matrix	brain
6	chr17:45216400-45228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:45216400-45232600	Strong transcription	Osteobl	bone
8	chr17:45217000-45223200	Strong transcription	Fetal Brain Female	brain
9	chr17:45219000-45225200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:45219400-45233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr17:45220000-45232800	Strong transcription	A549	lung
12	chr17:45221000-45222600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:45221400-45222200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr17:45221400-45222200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr17:45221400-45222200	Weak transcription	HMEC	breast
16	chr17:45221400-45222200	Weak transcription	HSMM	muscle
17	chr17:45221400-45222400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr17:45221400-45222400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr17:45221400-45222400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:45221400-45222400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr17:45221400-45222400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:45221400-45222400	Weak transcription	Primary T cells from cord blood	blood
23	chr17:45221400-45222400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr17:45221400-45222400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr17:45221400-45222400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr17:45221400-45222400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr17:45221400-45222400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr17:45221400-45222400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr17:45221400-45222400	Weak transcription	Fetal Lung	lung
30	chr17:45221400-45222400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr17:45221400-45222400	Weak transcription	Fetal Muscle Leg	muscle
32	chr17:45221400-45222400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr17:45221400-45222400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr17:45221400-45222400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:45221400-45222400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr17:45221400-45222400	Weak transcription	GM12878-XiMat	blood
37	chr17:45221400-45222400	Weak transcription	HSMMtube	muscle
38	chr17:45221400-45222400	Weak transcription	HUVEC	blood vessel
39	chr17:45221400-45222400	Weak transcription	K562	blood
40	chr17:45221400-45222400	Weak transcription	NHDF-Ad	bronchial
41	chr17:45221400-45222400	Weak transcription	NHLF	lung
42	chr17:45221400-45222600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:45221400-45222600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr17:45221400-45222600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr17:45221400-45222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:45221400-45222600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:45221400-45222600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr17:45221400-45222600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr17:45221400-45222600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr17:45221400-45222600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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