Variant report

Variant	rs536156720
Chromosome Location	chr17:18221170-18221171
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:18221020-18221170	SAEC	small airway:	n/a	n/a
2	POLR2A	chr17:18221055-18221580	GM12878	blood:	n/a	n/a
3	CTCF	chr17:18221120-18221270	HEK293	kidney:	n/a	n/a
4	POLR2A	chr17:18221031-18221481	GM12891	blood:	n/a	n/a
5	POLR2A	chr17:18220203-18221689	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18209725..18212720-chr17:18219456..18221596,2	MCF-7	breast:
2	chr17:18118058..18120854-chr17:18219963..18222284,2	K562	blood:
3	chr17:18217609..18225680-chr17:18226125..18232187,14	K562	blood:
4	chr17:18159194..18166260-chr17:18215929..18222740,16	MCF-7	breast:
5	chr17:18218839..18221214-chr17:18276166..18278374,2	MCF-7	breast:
6	chr17:18160479..18164858-chr17:18221003..18224877,4	MCF-7	breast:
7	chr17:18151039..18153788-chr17:18220969..18222731,2	MCF-7	breast:

No data

Variant related genes	Relation type
TOP3A	TF binding region
ENSG00000177731	Chromatin interaction
ENSG00000267350	Chromatin interaction
ENSG00000177302	Chromatin interaction
ENSG00000177427	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv833386	chr17:18170261-18332726	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1057081	chr17:18171516-18256347	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv543247	chr17:18171516-18256347	Weak transcription Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1062368	chr17:18180747-18259234	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv833387	chr17:18200081-18378155	Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv1806346	chr17:18200081-18446384	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	esv1812661	chr17:18200081-18446384	Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv428333	chr17:18200081-18446384	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
13	nsv427992	chr17:18200081-19192047	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
14	nsv521075	chr17:18220770-18227081	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 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	chr17:18218600-18221200	ZNF genes & repeats	Fetal Intestine Large	intestine
2	chr17:18218600-18221600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr17:18218800-18222200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr17:18219000-18221800	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr17:18219400-18221800	Enhancers	Small Intestine	intestine
6	chr17:18219400-18224200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:18219400-18224200	Enhancers	Fetal Brain Male	brain
8	chr17:18219400-18224400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:18219400-18224800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:18219400-18227200	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr17:18219400-18266000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr17:18219600-18221600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:18219600-18221800	Genic enhancers	Thymus	Thymus
14	chr17:18219600-18222200	Enhancers	Placenta Amnion	Placenta Amnion
15	chr17:18219600-18222400	Genic enhancers	Fetal Thymus	thymus
16	chr17:18219600-18222400	Genic enhancers	HMEC	breast
17	chr17:18219600-18223600	Genic enhancers	Fetal Lung	lung
18	chr17:18219600-18223600	Genic enhancers	Fetal Muscle Leg	muscle
19	chr17:18219600-18223600	Genic enhancers	Fetal Stomach	stomach
20	chr17:18219600-18223800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr17:18219600-18224200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr17:18219600-18224200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr17:18219600-18224200	Genic enhancers	Liver	Liver
24	chr17:18219600-18224200	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr17:18219600-18224200	Genic enhancers	Left Ventricle	heart
26	chr17:18219600-18224400	Genic enhancers	Placenta	Placenta
27	chr17:18219600-18224600	Enhancers	Right Atrium	heart
28	chr17:18219600-18224800	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr17:18219600-18225000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr17:18219600-18226000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr17:18219800-18221200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:18219800-18221200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:18219800-18221400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:18219800-18221400	Genic enhancers	Stomach Mucosa	stomach
35	chr17:18219800-18221600	Genic enhancers	Brain Substantia Nigra	brain
36	chr17:18219800-18221600	Genic enhancers	HSMM	muscle
37	chr17:18219800-18222200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:18219800-18222200	Genic enhancers	Osteobl	bone
39	chr17:18219800-18222400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr17:18219800-18223600	Genic enhancers	Brain Hippocampus Middle	brain
41	chr17:18219800-18223800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr17:18219800-18223800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:18219800-18223800	Genic enhancers	Lung	lung
44	chr17:18219800-18223800	Genic enhancers	NHEK	skin
45	chr17:18219800-18224200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr17:18219800-18224200	Genic enhancers	Esophagus	oesophagus
47	chr17:18219800-18224200	Enhancers	Fetal Heart	heart
48	chr17:18219800-18224400	Genic enhancers	Spleen	Spleen
49	chr17:18219800-18224800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
50	chr17:18219800-18225000	Genic enhancers	Cortex derived primary cultured neurospheres	brain

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