Variant report

Variant	rs538747489
Chromosome Location	chr17:63095252-63095253
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr17:63095188-63095504	MCF10A-Er-Src	breast:	n/a	chr17:63095344-63095356 chr17:63095347-63095358
2	MYC	chr17:63095215-63095388	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr17:63095204-63095456	MCF10A-Er-Src	breast:	n/a	n/a
4	RAD21	chr17:63095225-63095425	IMR90	lung:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:63051381..63054935-chr17:63092846..63100708,11	MCF-7	breast:
2	chr17:63094402..63096834-chr17:63124738..63127386,3	MCF-7	breast:
3	chr17:63051785..63054961-chr17:63094963..63102322,8	MCF-7	breast:
4	chr17:63090606..63093224-chr17:63094471..63096809,2	K562	blood:
5	chr17:63056815..63059165-chr17:63094050..63096835,2	MCF-7	breast:
6	chr17:62969603..62971143-chr17:63093866..63096603,2	K562	blood:
7	chr17:63094877..63096816-chr17:63119599..63121828,2	K562	blood:
8	chr17:63088577..63090668-chr17:63093968..63095609,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000263470	TF binding region
ENSG00000120063	Chromatin interaction
ENSG00000214174	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066765	chr17:62649313-63124303	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv530764	chr17:62939944-63278472	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv575872	chr17:63084995-63111452	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv112229	chr17:63095123-63104894	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:63082200-63096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:63082800-63095400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr17:63082800-63095400	Weak transcription	Small Intestine	intestine
4	chr17:63089400-63095400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr17:63092200-63095400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr17:63092800-63096000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr17:63093600-63095400	Weak transcription	Stomach Mucosa	stomach
8	chr17:63093800-63095400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:63094000-63096000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr17:63094400-63096000	Weak transcription	Primary T cells from cord blood	blood
11	chr17:63094600-63095400	Weak transcription	Brain Anterior Caudate	brain
12	chr17:63095000-63096200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:63095000-63096200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr17:63095200-63095400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:63095200-63095400	Enhancers	Osteobl	bone
16	chr17:63095200-63095600	Enhancers	A549	lung
17	chr17:63095200-63096000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr17:63095200-63096000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr17:63095200-63096000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr17:63095200-63096200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:63095200-63096200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:63095200-63096200	Enhancers	Primary B cells from peripheral blood	blood
23	chr17:63095200-63096200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr17:63095200-63096200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:63095200-63096200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr17:63095200-63096200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:63095200-63096200	Enhancers	Adipose Nuclei	Adipose
28	chr17:63095200-63096200	Enhancers	Colon Smooth Muscle	Colon
29	chr17:63095200-63096200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr17:63095200-63096200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr17:63095200-63096200	Enhancers	GM12878-XiMat	blood
32	chr17:63095200-63096200	Enhancers	NH-A	brain
33	chr17:63095200-63096200	Enhancers	NHEK	skin

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