Variant report

Variant	rs59294806
Chromosome Location	chr17:19803613-19803614
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	chr17:19799931-19805138	K562	blood:	n/a	n/a
2	POLR2A	chr17:19803598-19804675	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:19768657..19772126-chr17:19801455..19804744,3	MCF-7	breast:
2	chr17:19803045..19804628-chr17:19806537..19808845,2	K562	blood:
3	chr17:19748663..19750741-chr17:19801498..19804267,2	K562	blood:
4	chr17:19769802..19772027-chr17:19799780..19804333,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270091	TF binding region
ENSG00000083290	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2072337	0.89[ASN][1000 genomes]
rs28424266	0.80[ASN][1000 genomes]
rs4141185	0.89[ASN][1000 genomes]
rs58491609	0.93[AFR][1000 genomes]
rs58933698	0.86[AFR][1000 genomes]
rs73303979	0.89[ASN][1000 genomes]
rs9893296	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv482398	chr17:19673458-19808039	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv518888	chr17:19789453-19804247	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv907869	chr17:19795774-19926836	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19796400-19809800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:19798400-19804000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:19799200-19808400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr17:19799400-19803800	Weak transcription	Thymus	Thymus
5	chr17:19799400-19805000	Weak transcription	Fetal Intestine Large	intestine
6	chr17:19799600-19803800	Weak transcription	Primary T cells from cord blood	blood
7	chr17:19799800-19805200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr17:19799800-19806800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr17:19799800-19807000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:19800200-19804000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr17:19800600-19807600	Weak transcription	Brain Angular Gyrus	brain
12	chr17:19800800-19803800	Weak transcription	Liver	Liver
13	chr17:19800800-19803800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr17:19801000-19803800	Weak transcription	Spleen	Spleen
15	chr17:19801000-19808200	Weak transcription	Left Ventricle	heart
16	chr17:19801000-19808400	Weak transcription	Esophagus	oesophagus
17	chr17:19801200-19803800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr17:19801200-19804000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:19801400-19803800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:19801400-19803800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:19801400-19803800	Weak transcription	Brain Substantia Nigra	brain
22	chr17:19801400-19803800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr17:19801400-19803800	Weak transcription	Placenta	Placenta
24	chr17:19801400-19804000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:19801400-19804000	Weak transcription	Adipose Nuclei	Adipose
26	chr17:19801400-19805400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr17:19801400-19806000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr17:19801400-19806600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr17:19801400-19806800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr17:19801400-19808200	Weak transcription	Right Ventricle	heart
31	chr17:19801400-19808400	Weak transcription	Fetal Kidney	kidney
32	chr17:19801400-19808400	Weak transcription	Gastric	stomach
33	chr17:19801400-19808400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr17:19801400-19808600	Weak transcription	Colonic Mucosa	Colon
35	chr17:19801400-19808600	Weak transcription	Small Intestine	intestine
36	chr17:19801400-19809000	Weak transcription	Psoas Muscle	Psoas
37	chr17:19801400-19814200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:19801600-19803800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr17:19801600-19803800	Weak transcription	Fetal Intestine Small	intestine
40	chr17:19801600-19804000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr17:19801600-19804000	Weak transcription	Aorta	Aorta
42	chr17:19801600-19804200	Weak transcription	Primary B cells from cord blood	blood
43	chr17:19801600-19805600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr17:19801600-19806200	Weak transcription	Brain Germinal Matrix	brain
45	chr17:19801600-19806400	Weak transcription	Colon Smooth Muscle	Colon
46	chr17:19801600-19808400	Weak transcription	Brain Anterior Caudate	brain
47	chr17:19801600-19808400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr17:19801600-19808800	Weak transcription	Fetal Heart	heart
49	chr17:19801600-19808800	Weak transcription	K562	blood
50	chr17:19801600-19814600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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