Variant report

Variant	rs372987670
Chromosome Location	chr17:15689448-15689449
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	POLR2A	chr17:15689421-15689556	A549	lung:	n/a	n/a
2	SPI1	chr17:15689366-15689501	K562	blood:	n/a	n/a
3	POLR2A	chr17:15689432-15689552	Gliobla	brain:	n/a	n/a
4	POLR2A	chr17:15689381-15689547	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr17:15689399-15689488	Kidney_OC	kidney:	n/a	n/a
6	POLR2A	chr17:15689443-15689533	A549	lung:	n/a	n/a
7	GABPA	chr17:15689256-15689571	A549	lung:	n/a	n/a
8	POLR2A	chr17:15689415-15689548	MCF-7	breast:	n/a	n/a
9	GABPA	chr17:15689362-15689578	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr17:15689325-15690090	MCF-7	breast:	n/a	n/a
11	POLR2A	chr17:15689398-15689745	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr17:15689368-15689564	MCF-7	breast:	n/a	n/a
13	FOXA2	chr17:15689329-15689568	A549	lung:	n/a	n/a
14	POLR2A	chr17:15689298-15689539	H1-hESC	embryonic stem cell:	n/a	n/a
15	GABPA	chr17:15689256-15689526	A549	lung:	n/a	n/a
16	POLR2A	chr17:15689415-15689586	A549	lung:	n/a	n/a
17	MYC	chr17:15689356-15689483	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
MEIS3P1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	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
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv907705	chr17:15611495-15717546	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv442411	chr17:15677001-15694785	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	6 gene(s)	inside rSNPs	diseases
11	esv3406800	chr17:15688452-15691000	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
12	esv3342426	chr17:15688677-15690975	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15686600-15689600	Weak transcription	Brain Germinal Matrix	brain
2	chr17:15686600-15689600	Weak transcription	Esophagus	oesophagus
3	chr17:15686600-15689600	Weak transcription	Lung	lung
4	chr17:15686600-15689600	Weak transcription	Pancreas	Pancrea
5	chr17:15686600-15689600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr17:15686600-15689600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr17:15686600-15689600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr17:15686600-15689800	Weak transcription	Placenta	Placenta
9	chr17:15686600-15690600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr17:15686600-15691400	Weak transcription	Gastric	stomach
11	chr17:15687800-15689600	Weak transcription	Colon Smooth Muscle	Colon
12	chr17:15687800-15690000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr17:15688200-15689600	Weak transcription	Fetal Lung	lung
14	chr17:15689000-15690000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr17:15689000-15690200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr17:15689000-15690200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr17:15689000-15690200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr17:15689200-15689800	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr17:15689200-15690000	Active TSS	Muscle Satellite Cultured Cells	--
20	chr17:15689200-15690000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:15689200-15690000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr17:15689200-15690000	Active TSS	Right Atrium	heart
23	chr17:15689200-15690000	Active TSS	HUVEC	blood vessel
24	chr17:15689200-15690000	Active TSS	NHDF-Ad	bronchial
25	chr17:15689200-15690200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr17:15689200-15690200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr17:15689200-15690200	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr17:15689200-15690200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:15689200-15690200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:15689200-15690200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr17:15689200-15690200	Active TSS	Fetal Brain Female	brain
32	chr17:15689200-15690200	Active TSS	Fetal Intestine Small	intestine
33	chr17:15689200-15690200	Active TSS	Fetal Muscle Trunk	muscle
34	chr17:15689200-15690200	Active TSS	Ovary	ovary
35	chr17:15689200-15690200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr17:15689200-15690200	Active TSS	Right Ventricle	heart
37	chr17:15689200-15690200	Active TSS	HSMM	muscle
38	chr17:15689200-15690200	Active TSS	NH-A	brain
39	chr17:15689200-15690200	Active TSS	Osteobl	bone
40	chr17:15689200-15690400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr17:15689200-15690400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr17:15689400-15689800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr17:15689400-15689800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:15689400-15689800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:15689400-15690000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:15689400-15690000	Active TSS	Aorta	Aorta
47	chr17:15689400-15690000	Active TSS	Duodenum Mucosa	Duodenum
48	chr17:15689400-15690000	Active TSS	Fetal Muscle Leg	muscle
49	chr17:15689400-15690000	Active TSS	Left Ventricle	heart
50	chr17:15689400-15690000	Active TSS	Psoas Muscle	Psoas

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