Variant report

Variant	rs531541556
Chromosome Location	chr17:46114997-46114998
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	CTCF	chr17:46113875-46115007	A549	lung:	n/a	n/a
2	CTCF	chr17:46113649-46115069	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr17:46114223-46115431	ProgFib	skin:	n/a	n/a
4	POLR2A	chr17:46114983-46115071	MCF-7	breast:	n/a	n/a
5	POLR2A	chr17:46114890-46115258	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr17:46114981-46115509	Gliobla	brain:	n/a	n/a
7	GABPA	chr17:46114705-46115016	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3AK20	chr17:46114632-46115192	PANC-1	pancreas:	n/a	n/a
9	TCF12	chr17:46114190-46115023	A549	lung:	n/a	n/a
10	MAX	chr17:46114154-46115029	A549	lung:	n/a	n/a
11	MAX	chr17:46114067-46115700	A549	lung:	n/a	n/a
12	POLR2A	chr17:46114241-46115050	U87	brain:	n/a	n/a
13	PAX5	chr17:46114775-46115041	GM12892	blood:	n/a	chr17:46114900-46114918
14	CREB1	chr17:46114387-46115048	A549	lung:	n/a	n/a
15	POLR2A	chr17:46114081-46115133	IMR90	lung:	n/a	n/a
16	POLR2A	chr17:46114968-46115288	A549	lung:	n/a	n/a
17	SIN3A	chr17:46114327-46115141	H1-hESC	embryonic stem cell:	n/a	chr17:46114983-46114996 chr17:46114682-46114695

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46114300..46116159-chr17:46124838..46126678,3	K562	blood:
2	chr16:67063760..67064283-chr17:46114502..46115278,2	MCF-7	breast:

Variant related genes	Relation type
MIR152	TF binding region
COPZ2	TF binding region
ENSG00000263412	Chromatin interaction
ENSG00000067955	Chromatin interaction
ENSG00000082641	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	esv3427892	chr17:46114053-46116401	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46114000-46115000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr17:46114000-46115400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr17:46114200-46115000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
4	chr17:46114200-46115000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr17:46114200-46115000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:46114200-46115000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
7	chr17:46114200-46115000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
8	chr17:46114200-46115000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr17:46114200-46115000	Flanking Bivalent TSS/Enh	Placenta	Placenta
10	chr17:46114200-46115400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr17:46114200-46115400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr17:46114200-46115400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr17:46114200-46115400	Active TSS	HSMMtube	muscle
14	chr17:46114200-46115600	Active TSS	Fetal Kidney	kidney
15	chr17:46114400-46115000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
16	chr17:46114400-46115000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
17	chr17:46114400-46115000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr17:46114400-46115000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
19	chr17:46114400-46115000	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr17:46114400-46115000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
21	chr17:46114400-46115000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr17:46114400-46115000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
23	chr17:46114400-46115000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:46114400-46115000	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
25	chr17:46114400-46115000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:46114400-46115000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr17:46114400-46115000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:46114400-46115000	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:46114400-46115000	Flanking Active TSS	Liver	Liver
30	chr17:46114400-46115000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
31	chr17:46114400-46115000	Bivalent/Poised TSS	Fetal Lung	lung
32	chr17:46114400-46115000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
33	chr17:46114400-46115000	Flanking Active TSS	HMEC	breast
34	chr17:46114400-46115400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr17:46114400-46115400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
36	chr17:46114400-46115400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr17:46114400-46115400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:46114400-46115400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr17:46114400-46115400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr17:46114400-46115400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:46114400-46115400	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr17:46114400-46115400	Active TSS	Brain Substantia Nigra	brain
43	chr17:46114400-46115400	Active TSS	Colon Smooth Muscle	Colon
44	chr17:46114400-46115400	Active TSS	Esophagus	oesophagus
45	chr17:46114400-46115400	Active TSS	Fetal Heart	heart
46	chr17:46114400-46115400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr17:46114400-46115400	Active TSS	Rectal Smooth Muscle	rectum
48	chr17:46114400-46115400	Active TSS	A549	lung
49	chr17:46114400-46115400	Active TSS	GM12878-XiMat	blood
50	chr17:46114400-46115400	Active TSS	HSMM	muscle

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