Variant report

Variant	rs142880760
Chromosome Location	chr17:46115206-46115207
allele	-/C
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	chr17:46114223-46115431	ProgFib	skin:	n/a	n/a
2	POLR2A	chr17:46114890-46115258	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr17:46114981-46115509	Gliobla	brain:	n/a	n/a
4	MAX	chr17:46114067-46115700	A549	lung:	n/a	n/a
5	POLR2A	chr17:46115038-46115222	A549	lung:	n/a	n/a
6	CTCF	chr17:46115084-46115232	MCF-7	breast:	n/a	n/a
7	POLR2A	chr17:46114968-46115288	A549	lung:	n/a	n/a

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
ENSG00000082641	Chromatin interaction
ENSG00000067955	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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46114000-46115400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr17:46114200-46115400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr17:46114200-46115400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr17:46114200-46115400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr17:46114200-46115400	Active TSS	HSMMtube	muscle
6	chr17:46114200-46115600	Active TSS	Fetal Kidney	kidney
7	chr17:46114400-46115400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr17:46114400-46115400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr17:46114400-46115400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:46114400-46115400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr17:46114400-46115400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr17:46114400-46115400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:46114400-46115400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:46114400-46115400	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr17:46114400-46115400	Active TSS	Brain Substantia Nigra	brain
16	chr17:46114400-46115400	Active TSS	Colon Smooth Muscle	Colon
17	chr17:46114400-46115400	Active TSS	Esophagus	oesophagus
18	chr17:46114400-46115400	Active TSS	Fetal Heart	heart
19	chr17:46114400-46115400	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr17:46114400-46115400	Active TSS	Rectal Smooth Muscle	rectum
21	chr17:46114400-46115400	Active TSS	A549	lung
22	chr17:46114400-46115400	Active TSS	GM12878-XiMat	blood
23	chr17:46114400-46115400	Active TSS	HSMM	muscle
24	chr17:46114400-46115400	Active TSS	NH-A	brain
25	chr17:46114400-46115400	Active TSS	NHDF-Ad	bronchial
26	chr17:46114400-46115400	Active TSS	Osteobl	bone
27	chr17:46114400-46115600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:46114400-46115600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr17:46114400-46115600	Active TSS	Aorta	Aorta
30	chr17:46114400-46115600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
31	chr17:46114400-46115600	Active TSS	Hela-S3	cervix
32	chr17:46114400-46116000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr17:46114600-46115400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr17:46114600-46115400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:46114600-46115400	Active TSS	Muscle Satellite Cultured Cells	--
36	chr17:46114600-46115400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:46114600-46115400	Active TSS	Adipose Nuclei	Adipose
38	chr17:46114600-46115400	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr17:46114600-46115400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr17:46114600-46115400	Bivalent/Poised TSS	Fetal Stomach	stomach
41	chr17:46114600-46115400	Active TSS	Left Ventricle	heart
42	chr17:46114600-46115400	Active TSS	Psoas Muscle	Psoas
43	chr17:46114600-46115400	Active TSS	Right Atrium	heart
44	chr17:46114600-46115400	Active TSS	Right Ventricle	heart
45	chr17:46114600-46115400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
46	chr17:46114600-46115400	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr17:46114600-46115400	Bivalent/Poised TSS	Small Intestine	intestine
48	chr17:46114600-46115400	Active TSS	Stomach Smooth Muscle	stomach
49	chr17:46114600-46115400	Active TSS	NHLF	lung
50	chr17:46114600-46115600	Active TSS	Brain Anterior Caudate	brain

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