Variant report

Variant	rs113654961
Chromosome Location	chr17:45148569-45148570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr17:45148550-45148629	K562	blood:	n/a	n/a
2	ELF1	chr17:45148528-45148929	K562	blood:	n/a	chr17:45148709-45148722 chr17:45148733-45148746
3	ATF1	chr17:45148562-45148592	K562	blood:	n/a	n/a
4	GABPA	chr17:45148534-45148934	K562	blood:	n/a	n/a
5	GABPA	chr17:45148545-45148921	K562	blood:	n/a	n/a
6	CBX3	chr17:45148405-45148864	K562	blood:	n/a	n/a
7	GABPA	chr17:45148508-45148850	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr17:45148519-45148723	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45148479..45151206-chr17:45175479..45177922,2	K562	blood:

Variant related genes	Relation type
ENSG00000262879	TF binding region
ENSG00000262879	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3492820	chr17:44174959-45161556	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3492821	chr17:44174959-45161556	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	esv3502492	chr17:44305975-45169159	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv3502493	chr17:44305975-45169159	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	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
7	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv522797	chr17:45084279-45183152	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv3332795	chr17:45116212-45209297	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	13 gene(s)	inside rSNPs	diseases
10	esv3386521	chr17:45116232-45209267	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	esv21010	chr17:45125753-45177221	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1059766	chr17:45130765-45203468	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	esv9886	chr17:45142849-45153796	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv978431	chr17:45146826-45151336	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45145000-45148600	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr17:45145000-45148600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:45145000-45148600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr17:45145000-45148600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:45145000-45148600	Weak transcription	Left Ventricle	heart
6	chr17:45145000-45148800	Weak transcription	Fetal Intestine Large	intestine
7	chr17:45145000-45149400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr17:45145000-45149400	Weak transcription	Fetal Stomach	stomach
9	chr17:45145000-45149400	Weak transcription	Ovary	ovary
10	chr17:45145000-45149400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:45145000-45149800	Weak transcription	Spleen	Spleen
12	chr17:45145000-45150000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr17:45145000-45150000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:45145000-45150000	Weak transcription	Esophagus	oesophagus
15	chr17:45145000-45150000	Weak transcription	HSMM	muscle
16	chr17:45145000-45150200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr17:45145000-45150200	Weak transcription	Brain Hippocampus Middle	brain
18	chr17:45145000-45151600	Weak transcription	Psoas Muscle	Psoas
19	chr17:45145000-45152200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:45145000-45152400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr17:45145000-45158800	Weak transcription	NHLF	lung
22	chr17:45145000-45163600	Weak transcription	Aorta	Aorta
23	chr17:45145000-45163800	Weak transcription	Small Intestine	intestine
24	chr17:45145000-45164600	Weak transcription	Brain Angular Gyrus	brain
25	chr17:45145000-45169800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:45145000-45169800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:45145000-45169800	Weak transcription	Fetal Lung	lung
28	chr17:45145000-45176400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:45145000-45176600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:45145000-45176800	Weak transcription	Lung	lung
31	chr17:45145200-45148600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr17:45145200-45148600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr17:45145200-45148600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr17:45145200-45150200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:45145200-45150200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr17:45145200-45150200	Weak transcription	GM12878-XiMat	blood
37	chr17:45145200-45157400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr17:45145200-45158800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:45145200-45162200	Weak transcription	HepG2	liver
40	chr17:45145200-45169200	Weak transcription	Primary B cells from cord blood	blood
41	chr17:45145200-45170200	Weak transcription	Brain Germinal Matrix	brain
42	chr17:45145200-45176600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr17:45145400-45176000	Weak transcription	Primary T cells from cord blood	blood
44	chr17:45146000-45158600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr17:45146200-45149000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:45146400-45150000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr17:45146400-45169800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr17:45146400-45170800	Weak transcription	Dnd41	blood
49	chr17:45146600-45148600	Weak transcription	Fetal Intestine Small	intestine
50	chr17:45146600-45149000	Enhancers	HMEC	breast

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