Variant report

Variant	rs527643708
Chromosome Location	chr17:45610579-45610580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1806110	chr17:45477544-45673592	Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv833468	chr17:45511563-45683164	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv469573	chr17:45511582-45698942	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv471701	chr17:45511583-45698942	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv1793478	chr17:45518444-45671051	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers 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 target site	31 gene(s)	inside rSNPs	diseases
11	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	esv1808961	chr17:45542951-45664746	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	esv33689	chr17:45551959-45664575	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	nsv471513	chr17:45552080-45671439	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv908570	chr17:45571502-45684651	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv1818529	chr17:45583088-45683095	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv962334	chr17:45600707-45632564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv471403	chr17:45608444-45700642	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
21	nsv482203	chr17:45608444-45700642	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
22	esv1811254	chr17:45609466-45673592	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45607600-45610800	Active TSS	A549	lung
2	chr17:45608000-45610600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:45608000-45610600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr17:45608000-45610600	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr17:45608000-45610600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr17:45608000-45610600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:45608000-45610600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:45608000-45610600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:45608000-45610600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr17:45608000-45610600	Active TSS	Fetal Intestine Large	intestine
11	chr17:45608000-45610600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr17:45608000-45610600	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr17:45608000-45610600	Active TSS	Stomach Smooth Muscle	stomach
14	chr17:45608000-45610600	Active TSS	HSMM	muscle
15	chr17:45608000-45610800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:45608000-45610800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:45608000-45610800	Active TSS	Fetal Brain Female	brain
18	chr17:45608000-45610800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr17:45608000-45610800	Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr17:45608000-45610800	Active TSS	NH-A	brain
21	chr17:45608000-45610800	Active TSS	NHEK	skin
22	chr17:45608000-45611000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr17:45608000-45611000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:45608000-45611000	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr17:45608000-45611000	Active TSS	HUVEC	blood vessel
26	chr17:45608000-45611000	Active TSS	NHLF	lung
27	chr17:45608000-45611200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:45608000-45611200	Active TSS	Muscle Satellite Cultured Cells	--
29	chr17:45608000-45611200	Active TSS	HMEC	breast
30	chr17:45608000-45611200	Active TSS	HSMMtube	muscle
31	chr17:45608000-45611400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr17:45608200-45610600	Active TSS	Cortex derived primary cultured neurospheres	brain
33	chr17:45608600-45610600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr17:45608800-45610600	Active TSS	K562	blood
35	chr17:45609200-45611000	Active TSS	Brain Angular Gyrus	brain
36	chr17:45609200-45611400	Active TSS	GM12878-XiMat	blood
37	chr17:45609600-45613400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr17:45609800-45610600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr17:45609800-45610600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr17:45609800-45611000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:45609800-45611200	Enhancers	Primary B cells from cord blood	blood
42	chr17:45609800-45611400	Enhancers	Liver	Liver
43	chr17:45609800-45624800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr17:45610000-45610600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr17:45610000-45610600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr17:45610000-45610800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr17:45610000-45611000	Enhancers	Primary neutrophils fromperipheralblood	blood
48	chr17:45610000-45611000	Enhancers	Fetal Lung	lung
49	chr17:45610000-45617400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr17:45610000-45623400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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