Variant report

Variant	rs17634758
Chromosome Location	chr17:37563567-37563568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:37563401-37564240	K562	blood:	n/a	n/a
2	POLR2A	chr17:37563457-37565846	K562	blood:	n/a	n/a
3	POLR2A	chr17:37563068-37564168	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:37563076-37565821	K562	blood:	n/a	n/a
5	POLR2A	chr17:37563466-37563854	HepG2	liver:	n/a	n/a
6	POLR2A	chr17:37563358-37565713	PFSK-1	brain:	n/a	n/a
7	POLR2A	chr17:37562934-37565689	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37563527..37566296-chr17:37604370..37608841,4	K562	blood:
2	chr17:37560896..37563605-chr17:37565302..37568802,4	K562	blood:
3	chr17:37554166..37559579-chr17:37560149..37566486,7	MCF-7	breast:
4	chr17:37562108..37564451-chr17:37572448..37573955,2	K562	blood:
5	chr17:37563339..37564001-chr17:37703830..37704468,2	MCF-7	breast:

No data

Variant related genes	Relation type
FBXL20	TF binding region
ENSG00000167258	Chromatin interaction
ENSG00000266469	Chromatin interaction
ENSG00000108306	Chromatin interaction
ENSG00000125686	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16968748	0.81[EUR][1000 genomes]
rs17397153	0.81[EUR][1000 genomes]
rs55703686	0.81[EUR][1000 genomes]
rs55844295	1.00[EUR][1000 genomes]
rs57418114	0.83[EUR][1000 genomes]
rs57489670	0.81[EUR][1000 genomes]
rs58225361	0.81[EUR][1000 genomes]
rs58467767	1.00[EUR][1000 genomes]
rs58850789	1.00[EUR][1000 genomes]
rs58905757	0.81[EUR][1000 genomes]
rs59329213	1.00[EUR][1000 genomes]
rs59743097	0.81[EUR][1000 genomes]
rs60152394	0.81[EUR][1000 genomes]
rs60333790	1.00[EUR][1000 genomes]
rs60506770	1.00[EUR][1000 genomes]
rs61067673	0.81[EUR][1000 genomes]
rs61749873	1.00[EUR][1000 genomes]
rs7226073	1.00[EUR][1000 genomes]
rs73291305	0.81[EUR][1000 genomes]
rs73291310	0.81[EUR][1000 genomes]
rs73294950	1.00[EUR][1000 genomes]
rs73294997	1.00[EUR][1000 genomes]
rs73298796	1.00[EUR][1000 genomes]
rs73300732	1.00[EUR][1000 genomes]
rs73302552	1.00[EUR][1000 genomes]
rs73302557	1.00[EUR][1000 genomes]
rs73302588	1.00[EUR][1000 genomes]
rs73302601	1.00[EUR][1000 genomes]
rs73304305	0.83[EUR][1000 genomes]
rs73308815	0.81[EUR][1000 genomes]
rs73983271	0.81[EUR][1000 genomes]
rs73985210	1.00[EUR][1000 genomes]
rs9972899	1.00[EUR][1000 genomes]

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	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37558400-37566000	Weak transcription	Stomach Mucosa	stomach
2	chr17:37558400-37583800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:37558600-37563600	Weak transcription	Fetal Brain Male	brain
4	chr17:37558800-37563600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:37558800-37563600	Weak transcription	Aorta	Aorta
6	chr17:37558800-37563600	Weak transcription	Esophagus	oesophagus
7	chr17:37558800-37563600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr17:37558800-37563800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:37558800-37563800	Weak transcription	Spleen	Spleen
10	chr17:37558800-37564000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:37558800-37564000	Weak transcription	Gastric	stomach
12	chr17:37558800-37566400	Weak transcription	Small Intestine	intestine
13	chr17:37559000-37563800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:37559000-37563800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr17:37559000-37563800	Weak transcription	Lung	lung
16	chr17:37559000-37563800	Weak transcription	Pancreas	Pancrea
17	chr17:37559000-37564000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:37559000-37564000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr17:37559000-37564000	Weak transcription	Colonic Mucosa	Colon
20	chr17:37559000-37564200	Weak transcription	Right Ventricle	heart
21	chr17:37559000-37564600	Weak transcription	Ovary	ovary
22	chr17:37559000-37566000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:37559000-37571000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:37559000-37571200	Weak transcription	Right Atrium	heart
25	chr17:37559000-37606600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr17:37559200-37563600	Weak transcription	Brain Angular Gyrus	brain
27	chr17:37559200-37563800	Weak transcription	Fetal Stomach	stomach
28	chr17:37559200-37564000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr17:37559200-37564000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr17:37559200-37565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr17:37559200-37571200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr17:37559400-37563600	Weak transcription	GM12878-XiMat	blood
33	chr17:37559400-37563800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr17:37559400-37563800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr17:37559400-37563800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr17:37559400-37563800	Weak transcription	Brain Substantia Nigra	brain
37	chr17:37559400-37564600	Weak transcription	Fetal Heart	heart
38	chr17:37559400-37565000	Weak transcription	Colon Smooth Muscle	Colon
39	chr17:37559400-37565800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr17:37559400-37566000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr17:37560800-37567800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr17:37560800-37605000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:37560800-37605400	Strong transcription	Fetal Thymus	thymus
44	chr17:37560800-37605600	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr17:37561000-37578400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr17:37561000-37585200	Strong transcription	Brain Germinal Matrix	brain
47	chr17:37561000-37604800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr17:37561000-37604800	Strong transcription	Placenta	Placenta
49	chr17:37561000-37605200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr17:37561000-37605400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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