Variant report

Variant	rs114491844
Chromosome Location	chr17:16649289-16649290
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
2	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv907720	chr17:16557606-16758204	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv2756642	chr17:16571504-16734163	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv2757653	chr17:16571504-16764830	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv984504	chr17:16572370-16776542	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	esv2635467	chr17:16589774-16757904	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv833378	chr17:16596129-16750963	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv907721	chr17:16599123-16758204	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	nsv482681	chr17:16609078-16767235	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	nsv907722	chr17:16643881-16758204	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv907723	chr17:16643881-16777177	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv978474	chr17:16644356-16665370	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
17	nsv960063	chr17:16649044-16662779	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16648800-16649600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr17:16649000-16649400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr17:16649000-16649400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:16649000-16649400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr17:16649000-16649400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:16649000-16649600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr17:16649000-16649600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr17:16649000-16649600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr17:16649000-16649800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr17:16649000-16650000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr17:16649000-16650000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr17:16649200-16649400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:16649200-16649400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:16649200-16649400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:16649200-16649400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:16649200-16649400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:16649200-16649400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr17:16649200-16649400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:16649200-16649400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:16649200-16649400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:16649200-16649400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr17:16649200-16649400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
23	chr17:16649200-16649400	Bivalent Enhancer	Fetal Kidney	kidney
24	chr17:16649200-16649400	Bivalent Enhancer	Fetal Lung	lung
25	chr17:16649200-16649400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr17:16649200-16649400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
27	chr17:16649200-16649400	Bivalent Enhancer	HSMM	muscle
28	chr17:16649200-16649600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:16649200-16649600	Active TSS	Brain Anterior Caudate	brain
30	chr17:16649200-16649600	Active TSS	Brain Cingulate Gyrus	brain
31	chr17:16649200-16649800	Active TSS	ES-I3 Cell Line	embryonic stem cell

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