Variant report

Variant	rs144644006
Chromosome Location	chr17:45215966-45215967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2C2	chr17:45215944-45216375	GM12878	blood:	n/a	n/a
2	GATA3	chr17:45215941-45216457	SH-SY5Y	brain:	n/a	n/a
3	ZNF274	chr17:45215950-45216373	H1-hESC	embryonic stem cell:	n/a	n/a
4	UBTF	chr17:45215964-45216311	K562	blood:	n/a	n/a
5	UBTF	chr17:45215940-45216371	K562	blood:	n/a	n/a
6	GTF2F1	chr17:45215935-45216376	K562	blood:	n/a	n/a
7	BRCA1	chr17:45215938-45216371	GM12878	blood:	n/a	n/a
8	ZBTB33	chr17:45215937-45216312	K562	blood:	n/a	n/a
9	ZKSCAN1	chr17:45215943-45216374	Hela-S3	cervix:	n/a	n/a
10	ZZZ3	chr17:45215946-45216376	GM12878	blood:	n/a	n/a
11	ATF1	chr17:45215937-45216305	K562	blood:	n/a	n/a
12	BRCA1	chr17:45215935-45216371	Hela-S3	cervix:	n/a	n/a
13	E2F4	chr17:45215942-45216311	GM12878	blood:	n/a	n/a
14	SUZ12	chr17:45215939-45216373	H1-hESC	embryonic stem cell:	n/a	n/a
15	GTF2F1	chr17:45215940-45216374	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45214288..45216196-chr2:133019606..133021862,2	MCF-7	breast:

No data

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

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 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	esv3364266	chr17:45213355-45216394	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv3343499	chr17:45213674-45219467	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2655194	chr17:45213766-45216342	ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv3342727	chr17:45213855-45216329	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	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
11	esv3359541	chr17:45214400-45216329	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv5454	chr17:45214556-45216243	Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv962405	chr17:45214587-45218734	Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3357949	chr17:45214596-45216193	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv3322820	chr17:45214612-45216165	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv3498554	chr17:45214622-45216138	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv3498555	chr17:45214622-45216138	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv3421208	chr17:45214625-45216243	Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv3347116	chr17:45214667-45216153	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv6742	chr17:45214674-45219295	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv3441824	chr17:45215025-45216156	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv3367909	chr17:45215045-45216126	ZNF genes & repeats Strong transcription Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv3395511	chr17:45215273-45216157	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv4562	chr17:45215735-45218794	Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 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	chr17:45210400-45218600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:45214600-45229200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:45214800-45216000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr17:45214800-45216000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:45214800-45216000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr17:45214800-45216000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:45214800-45216000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr17:45214800-45216000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr17:45214800-45216000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:45214800-45216000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr17:45214800-45216000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:45214800-45216000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr17:45214800-45216000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:45214800-45216000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr17:45214800-45216000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:45214800-45216000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr17:45214800-45216000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:45214800-45216000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:45214800-45216000	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr17:45214800-45216000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr17:45214800-45216000	Weak transcription	Primary T cells from cord blood	blood
23	chr17:45214800-45216000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr17:45214800-45216000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:45214800-45216000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr17:45214800-45216000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr17:45214800-45216000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr17:45214800-45216000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:45214800-45216000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:45214800-45216000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:45214800-45216000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr17:45214800-45216000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr17:45214800-45216000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr17:45214800-45216000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:45214800-45216000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr17:45214800-45216000	Strong transcription	Adipose Nuclei	Adipose
37	chr17:45214800-45216000	Weak transcription	Aorta	Aorta
38	chr17:45214800-45216000	Weak transcription	Brain Angular Gyrus	brain
39	chr17:45214800-45216000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr17:45214800-45216000	Weak transcription	Brain Hippocampus Middle	brain
41	chr17:45214800-45216000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr17:45214800-45216000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr17:45214800-45216000	Weak transcription	Brain Substantia Nigra	brain
44	chr17:45214800-45216000	Weak transcription	Colonic Mucosa	Colon
45	chr17:45214800-45216000	Weak transcription	Colon Smooth Muscle	Colon
46	chr17:45214800-45216000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr17:45214800-45216000	Weak transcription	Esophagus	oesophagus
48	chr17:45214800-45216000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr17:45214800-45216000	Weak transcription	Fetal Brain Male	brain
50	chr17:45214800-45216000	Weak transcription	Fetal Heart	heart

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