Variant report

Variant	rs554014466
Chromosome Location	chr17:16117903-16117904
allele	A/G
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	POLR2A	chr17:16117776-16119427	MCF10A-Er-Src	breast:	n/a	n/a
2	UBTF	chr17:16117847-16119828	K562	blood:	n/a	n/a
3	MAX	chr17:16117698-16119517	Hela-S3	cervix:	n/a	chr17:16119114-16119124
4	CEBPB	chr17:16117862-16118207	IMR90	lung:	n/a	n/a
5	EP300	chr17:16117874-16118205	Hela-S3	cervix:	n/a	n/a
6	MAX	chr17:16117755-16119848	A549	lung:	n/a	chr17:16119114-16119124
7	RCOR1	chr17:16117886-16118248	Hela-S3	cervix:	n/a	n/a
8	CUX1	chr17:16117460-16118070	K562	blood:	n/a	chr17:16117629-16117645
9	BRCA1	chr17:16117588-16118208	Hela-S3	cervix:	n/a	n/a
10	SIN3A	chr17:16117628-16119400	H1-hESC	embryonic stem cell:	n/a	chr17:16119065-16119076 chr17:16118594-16118607
11	TBP	chr17:16117840-16118346	Hela-S3	cervix:	n/a	n/a
12	MYC	chr17:16117569-16117938	MCF10A-Er-Src	breast:	n/a	n/a
13	TCF12	chr17:16117857-16119909	A549	lung:	n/a	chr17:16118594-16118604
14	REST	chr17:16117554-16119593	H1-neurons	neurons:	n/a	chr17:16117736-16117749 chr17:16117855-16117864 chr17:16118594-16118607 chr17:16118597-16118610
15	ELK1	chr17:16117883-16118078	Hela-S3	cervix:	n/a	n/a
16	MXI1	chr17:16117500-16119333	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr17:16117861-16118372	Hela-S3	cervix:	n/a	n/a
18	MAFK	chr17:16117699-16118378	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr17:16117097-16119798	SK-N-SH	brain:	n/a	n/a
20	MAX	chr17:16117873-16119721	A549	lung:	n/a	chr17:16119114-16119124
21	KAP1	chr17:16117688-16119675	HEK293	kidney:	n/a	n/a
22	REST	chr17:16117619-16119758	A549	lung:	n/a	chr17:16117736-16117749 chr17:16117855-16117864 chr17:16118594-16118607 chr17:16118597-16118610
23	MAZ	chr17:16117822-16119493	IMR90	lung:	n/a	chr17:16119114-16119124

No.	Distal block	Cell Line	Cell type
1	chr17:16117555..16120555-chr17:16284027..16286497,3	K562	blood:
2	chr17:16117873..16120120-chr17:16255453..16257553,2	MCF-7	breast:
3	chr17:16116365..16119285-chr17:16395133..16397532,2	K562	blood:
4	chr17:16115684..16120775-chr17:16282002..16285784,4	MCF-7	breast:
5	chr17:16117370..16118876-chr17:16121320..16122865,2	K562	blood:
6	chr17:16117769..16122024-chr17:16284027..16287393,3	K562	blood:
7	chr17:15987048..15989365-chr17:16117375..16120147,2	MCF-7	breast:
8	chr17:15901763..15905062-chr17:16117309..16121912,5	MCF-7	breast:
9	chr17:16117875..16121026-chr17:16318413..16323261,4	K562	blood:
10	chr17:15902955..15905510-chr17:16117213..16119076,2	K562	blood:

Variant related genes	Relation type
PIGL	TF binding region
ENSG00000264739	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000233979	Chromatin interaction
ENSG00000166582	Chromatin interaction
ENSG00000011295	Chromatin interaction
ENSG00000170315	Chromatin interaction
ENSG00000141027	Chromatin interaction
ENSG00000181350	Chromatin interaction
ENSG00000187688	Chromatin interaction
ENSG00000265401	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS 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 miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv522169	chr17:15923709-16147821	Strong transcription Weak transcription ZNF genes & repeats Enhancers 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	39 gene(s)	inside rSNPs	diseases
6	nsv907713	chr17:15981874-16127206	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
8	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
9	nsv907718	chr17:16080849-16143709	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
10	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
11	nsv112235	chr17:16116824-16120100	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16105400-16118000	Weak transcription	Spleen	Spleen
2	chr17:16106800-16118000	Weak transcription	Lung	lung
3	chr17:16114800-16119400	Active TSS	GM12878-XiMat	blood
4	chr17:16116200-16119400	Active TSS	HepG2	liver
5	chr17:16116400-16118000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr17:16116400-16119200	Active TSS	Fetal Intestine Small	intestine
7	chr17:16116400-16119400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr17:16116600-16121400	Active TSS	Psoas Muscle	Psoas
9	chr17:16116800-16118000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr17:16116800-16118000	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr17:16116800-16118200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr17:16116800-16118200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:16116800-16118200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr17:16116800-16118200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr17:16116800-16118200	Flanking Active TSS	Liver	Liver
16	chr17:16116800-16118800	Active TSS	Right Atrium	heart
17	chr17:16116800-16119000	Active TSS	Colonic Mucosa	Colon
18	chr17:16116800-16119200	Active TSS	NHLF	lung
19	chr17:16116800-16119400	Active TSS	H1 Cell Line	embryonic stem cell
20	chr17:16116800-16119400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:16116800-16119600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:16116800-16120800	Active TSS	Brain Angular Gyrus	brain
23	chr17:16116800-16121800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:16116800-16121800	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr17:16116800-16122000	Active TSS	K562	blood
26	chr17:16117000-16118000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:16117000-16118000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr17:16117000-16118200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr17:16117000-16118400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr17:16117000-16119200	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr17:16117000-16119200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr17:16117000-16119200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr17:16117000-16119400	Active TSS	Brain Anterior Caudate	brain
34	chr17:16117000-16119400	Active TSS	Fetal Intestine Large	intestine
35	chr17:16117000-16119400	Active TSS	Right Ventricle	heart
36	chr17:16117000-16119400	Active TSS	NHDF-Ad	bronchial
37	chr17:16117000-16120000	Active TSS	HSMMtube	muscle
38	chr17:16117000-16121200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr17:16117000-16121400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr17:16117000-16121400	Active TSS	Aorta	Aorta
41	chr17:16117000-16121600	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr17:16117000-16121600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr17:16117000-16121600	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr17:16117000-16121600	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr17:16117200-16118200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr17:16117200-16118400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr17:16117200-16118800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:16117200-16119000	Active TSS	HMEC	breast
49	chr17:16117200-16119200	Active TSS	Duodenum Mucosa	Duodenum
50	chr17:16117200-16119400	Active TSS	A549	lung

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