Variant report

Variant	rs185097402
Chromosome Location	chr17:45221107-45221108
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PRDM1	chr17:45221082-45221463	Hela-S3	cervix:	n/a	n/a
2	IRF3	chr17:45221088-45221461	GM12878	blood:	n/a	n/a
3	MAFK	chr17:45221083-45221463	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr17:45221081-45221473	K562	blood:	n/a	n/a
5	UBTF	chr17:45221093-45221451	K562	blood:	n/a	n/a
6	MAZ	chr17:45221081-45221464	Hela-S3	cervix:	n/a	n/a
7	RFX5	chr17:45221075-45221500	K562	blood:	n/a	n/a
8	BACH1	chr17:45221080-45221465	K562	blood:	n/a	n/a
9	BRCA1	chr17:45221081-45221467	GM12878	blood:	n/a	n/a
10	TCF7L2	chr17:45221091-45221458	Hela-S3	cervix:	n/a	n/a
11	GTF2F1	chr17:45221081-45221467	K562	blood:	n/a	n/a
12	WRNIP1	chr17:45221093-45221465	GM12878	blood:	n/a	n/a
13	IRF3	chr17:45221092-45221462	Hela-S3	cervix:	n/a	n/a
14	TBP	chr17:45221085-45221455	K562	blood:	n/a	n/a
15	STAT3	chr17:45221084-45221460	MCF10A-Er-Src	breast:	n/a	n/a
16	RCOR1	chr17:45221084-45221474	K562	blood:	n/a	n/a
17	ZNF143	chr17:45221079-45221474	Hela-S3	cervix:	n/a	n/a
18	KAT2A	chr17:45221084-45221459	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr17:45221087-45221466	Hela-S3	cervix:	n/a	n/a
20	GTF2F1	chr17:45221085-45221460	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZKSCAN1	chr17:45221084-45221463	Hela-S3	cervix:	n/a	n/a
22	SMC3	chr17:45221081-45221466	Hela-S3	cervix:	n/a	n/a
23	TBL1XR1	chr17:45221084-45221468	K562	blood:	n/a	n/a
24	ELK1	chr17:45221079-45221462	Hela-S3	cervix:	n/a	n/a
25	ELK1	chr17:45221085-45221467	K562	blood:	n/a	n/a
26	BRCA1	chr17:45221081-45221463	Hela-S3	cervix:	n/a	n/a
27	UBTF	chr17:45221094-45221451	K562	blood:	n/a	n/a
28	GATA3	chr17:45220794-45221455	SH-SY5Y	brain:	n/a	n/a
29	USF2	chr17:45221085-45221467	K562	blood:	n/a	n/a
30	IKZF1	chr17:45221092-45221451	GM12878	blood:	n/a	n/a
31	RCOR1	chr17:45221081-45221469	Hela-S3	cervix:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45219278..45221259-chr2:133018860..133021838,2	MCF-7	breast:
2	chr17:45220773..45221285-chr2:133019615..133020341,2	MCF-7	breast:

No data

Variant related genes	Relation type
CDC27	TF binding region
ENSG00000233786	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	esv7557	chr17:45219256-45221297	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3316178	chr17:45219664-45221352	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3316179	chr17:45219664-45221352	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	esv3387439	chr17:45219666-45221333	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	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
13	esv3432775	chr17:45219744-45221298	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	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
15	esv3400057	chr17:45220083-45221303	ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3347706	chr17:45220170-45221273	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 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	chr17:45216400-45221200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr17:45216400-45228800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:45216400-45232600	Strong transcription	Osteobl	bone
9	chr17:45217000-45223200	Strong transcription	Fetal Brain Female	brain
10	chr17:45219000-45221400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr17:45219000-45221400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr17:45219000-45221400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr17:45219000-45221400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr17:45219000-45221400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr17:45219000-45221400	ZNF genes & repeats	Left Ventricle	heart
16	chr17:45219000-45225200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:45219400-45221200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:45219400-45221200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:45219400-45221200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr17:45219400-45221200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:45219400-45221200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:45219400-45221200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:45219400-45221200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr17:45219400-45221200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr17:45219400-45221200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:45219400-45221200	Weak transcription	Aorta	Aorta
27	chr17:45219400-45221200	Weak transcription	Esophagus	oesophagus
28	chr17:45219400-45221200	Strong transcription	Placenta	Placenta
29	chr17:45219400-45221200	Weak transcription	Lung	lung
30	chr17:45219400-45221200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr17:45219400-45221200	Weak transcription	Right Atrium	heart
32	chr17:45219400-45221200	Weak transcription	Right Ventricle	heart
33	chr17:45219400-45221200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr17:45219400-45221200	Weak transcription	Small Intestine	intestine
35	chr17:45219400-45221200	Strong transcription	HepG2	liver
36	chr17:45219400-45221200	Weak transcription	NHEK	skin
37	chr17:45219400-45233400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:45219600-45221200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr17:45219600-45221200	Weak transcription	HSMM	muscle
40	chr17:45219800-45221200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:45219800-45221200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr17:45220000-45221200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr17:45220000-45232800	Strong transcription	A549	lung
44	chr17:45220200-45221200	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr17:45220200-45221200	Strong transcription	Thymus	Thymus
46	chr17:45220400-45221200	Strong transcription	NHLF	lung
47	chr17:45220600-45221200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:45220600-45221200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr17:45220600-45221200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr17:45220600-45221200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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