Variant report

Variant	rs185029595
Chromosome Location	chr17:45610269-45610270
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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	esv3389518	chr17:45606828-45610526	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	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
22	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
23	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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45607600-45610800	Active TSS	A549	lung
2	chr17:45607800-45610400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:45608000-45610400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr17:45608000-45610400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr17:45608000-45610400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:45608000-45610400	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr17:45608000-45610400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr17:45608000-45610400	Active TSS	Brain Cingulate Gyrus	brain
9	chr17:45608000-45610400	Active TSS	Brain Germinal Matrix	brain
10	chr17:45608000-45610400	Active TSS	Brain Hippocampus Middle	brain
11	chr17:45608000-45610400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:45608000-45610400	Active TSS	Duodenum Mucosa	Duodenum
13	chr17:45608000-45610400	Active TSS	Fetal Kidney	kidney
14	chr17:45608000-45610400	Active TSS	Psoas Muscle	Psoas
15	chr17:45608000-45610400	Active TSS	Rectal Smooth Muscle	rectum
16	chr17:45608000-45610400	Active TSS	Right Atrium	heart
17	chr17:45608000-45610400	Active TSS	Right Ventricle	heart
18	chr17:45608000-45610400	Active TSS	Thymus	Thymus
19	chr17:45608000-45610400	Active TSS	Hela-S3	cervix
20	chr17:45608000-45610400	Active TSS	Osteobl	bone
21	chr17:45608000-45610600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr17:45608000-45610600	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr17:45608000-45610600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr17:45608000-45610600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:45608000-45610600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:45608000-45610600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:45608000-45610600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:45608000-45610600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr17:45608000-45610600	Active TSS	Fetal Intestine Large	intestine
30	chr17:45608000-45610600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr17:45608000-45610600	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr17:45608000-45610600	Active TSS	Stomach Smooth Muscle	stomach
33	chr17:45608000-45610600	Active TSS	HSMM	muscle
34	chr17:45608000-45610800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr17:45608000-45610800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr17:45608000-45610800	Active TSS	Fetal Brain Female	brain
37	chr17:45608000-45610800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr17:45608000-45610800	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr17:45608000-45610800	Active TSS	NH-A	brain
40	chr17:45608000-45610800	Active TSS	NHEK	skin
41	chr17:45608000-45611000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr17:45608000-45611000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr17:45608000-45611000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr17:45608000-45611000	Active TSS	HUVEC	blood vessel
45	chr17:45608000-45611000	Active TSS	NHLF	lung
46	chr17:45608000-45611200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:45608000-45611200	Active TSS	Muscle Satellite Cultured Cells	--
48	chr17:45608000-45611200	Active TSS	HMEC	breast
49	chr17:45608000-45611200	Active TSS	HSMMtube	muscle
50	chr17:45608000-45611400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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