Variant report

Variant	rs75587802
Chromosome Location	chr17:17206024-17206025
allele	-/TTA
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr17:17205972-17209515	SK-N-SH	brain:	n/a	chr17:17208730-17208739
2	ZNF384	chr17:17205800-17206703	K562	blood:	n/a	n/a
3	POLR2A	chr17:17205956-17209394	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17088943..17091453-chr17:17205581..17207911,3	K562	blood:
2	chr17:17183059..17186537-chr17:17204352..17209458,5	K562	blood:
3	chr17:17182421..17186483-chr17:17204152..17209830,5	MCF-7	breast:
4	chr17:17137888..17140600-chr17:17205281..17208205,3	MCF-7	breast:
5	chr17:17138742..17142464-chr17:17205516..17208012,3	MCF-7	breast:
6	chr17:17181690..17186423-chr17:17204352..17210529,13	K562	blood:

No data

Variant related genes	Relation type
NT5M	TF binding region
ENSG00000266498	Chromatin interaction
ENSG00000141030	Chromatin interaction
ENSG00000154803	Chromatin interaction
ENSG00000133030	Chromatin interaction
ENSG00000264187	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833380	chr17:17088416-17241206	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1065811	chr17:17104760-17225204	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS 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 target site	20 gene(s)	inside rSNPs	diseases
3	nsv833382	chr17:17124329-17305683	Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv469777	chr17:17127385-17272698	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv482546	chr17:17127385-17272698	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS 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 target site	19 gene(s)	inside rSNPs	diseases
6	esv33859	chr17:17189904-17208157	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv1061186	chr17:17200427-17314406	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv3408202	chr17:17205752-17208600	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3351525	chr17:17205977-17207925	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17202000-17206400	Weak transcription	HSMM	muscle
2	chr17:17203400-17207000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr17:17203600-17207000	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr17:17204400-17206200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr17:17204400-17206200	Weak transcription	NHLF	lung
6	chr17:17204600-17206200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:17204600-17206200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr17:17204600-17206200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr17:17204600-17206200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr17:17204600-17206200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr17:17204600-17206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr17:17204600-17206200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr17:17204600-17206200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr17:17204600-17206200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr17:17204600-17206200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:17204600-17206200	Weak transcription	Brain Angular Gyrus	brain
17	chr17:17204600-17206200	Weak transcription	Brain Anterior Caudate	brain
18	chr17:17204600-17206200	Weak transcription	Brain Hippocampus Middle	brain
19	chr17:17204600-17206200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr17:17204600-17206200	Weak transcription	Fetal Brain Female	brain
21	chr17:17204600-17206200	Weak transcription	Fetal Intestine Large	intestine
22	chr17:17204600-17206200	Weak transcription	Left Ventricle	heart
23	chr17:17204600-17206200	Weak transcription	Ovary	ovary
24	chr17:17204600-17206200	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr17:17204600-17206200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr17:17204600-17206200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:17204600-17206200	Weak transcription	Right Atrium	heart
28	chr17:17204600-17206200	Weak transcription	Right Ventricle	heart
29	chr17:17204600-17206200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr17:17204600-17206200	Weak transcription	Thymus	Thymus
31	chr17:17204600-17206200	Weak transcription	HUVEC	blood vessel
32	chr17:17204600-17206200	Weak transcription	NH-A	brain
33	chr17:17204600-17206200	Weak transcription	NHDF-Ad	bronchial
34	chr17:17204600-17206400	Weak transcription	Aorta	Aorta
35	chr17:17204600-17206400	Weak transcription	Esophagus	oesophagus
36	chr17:17204600-17206400	Weak transcription	Gastric	stomach
37	chr17:17204600-17206400	Weak transcription	Pancreas	Pancrea
38	chr17:17204600-17206400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr17:17204800-17206200	Weak transcription	Primary B cells from cord blood	blood
40	chr17:17204800-17206200	Weak transcription	Liver	Liver
41	chr17:17204800-17206200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr17:17204800-17206200	Weak transcription	Spleen	Spleen
43	chr17:17204800-17206400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:17205000-17206200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr17:17205000-17206200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr17:17205000-17206200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr17:17205000-17206200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr17:17205000-17206200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr17:17205000-17206200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr17:17205000-17206200	Weak transcription	Fetal Heart	heart

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