Variant report

Variant	rs2286559
Chromosome Location	chr17:66537003-66537004
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:66535309-66537860	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr17:66535303-66540040	HepG2	liver:	n/a	n/a
3	POLR2A	chr17:66534614-66539539	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:66533313-66538368	K562	blood:	n/a	n/a
5	POLR2A	chr17:66536375-66537479	K562	blood:	n/a	n/a
6	POLR2A	chr17:66536711-66537499	U87	brain:	n/a	n/a
7	POLR2A	chr17:66535185-66537181	GM12878	blood:	n/a	n/a
8	NFATC1	chr17:66535569-66537195	GM12878	blood:	n/a	n/a
9	POLR2A	chr17:66535594-66537947	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:66535238-66538921	HepG2	liver:	n/a	n/a
11	POLR2A	chr17:66534939-66538247	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr17:66536904-66537205	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr17:66536389-66537073	HepG2	liver:	n/a	n/a
14	POLR2A	chr17:66536758-66537124	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr17:66536705-66537534	U87	brain:	n/a	n/a
16	POLR2A	chr17:66536686-66537038	HCT-116	colon:	n/a	n/a
17	POLR2A	chr17:66536968-66537007	GM12878	blood:	n/a	n/a
18	FOSL2	chr17:66535224-66539318	HepG2	liver:	n/a	chr17:66536355-66536369 chr17:66537173-66537182
19	POLR2A	chr17:66536938-66537044	A549	lung:	n/a	n/a
20	POLR2A	chr17:66536725-66537100	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:66535960-66537843	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr17:66535644-66537036	GM12891	blood:	n/a	n/a
23	POLR2A	chr17:66536535-66538172	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr17:66535601-66537170	HL-60	blood:	n/a	n/a
25	POLR2A	chr17:66528378-66541028	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:66521050..66523596-chr17:66535298..66538130,2	K562	blood:
2	chr17:66510658..66512387-chr17:66534729..66537102,2	MCF-7	breast:
3	chr17:66523700..66527434-chr17:66534416..66537406,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000269657	TF binding region
ENSG00000108946	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2952278	1.00[CHB][hapmap]
rs8080306	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833524	chr17:66524030-66705194	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv510723	chr17:66529668-66557425	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66511800-66537800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr17:66514800-66537400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr17:66514800-66537600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:66517200-66537600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:66517600-66537200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr17:66518000-66537200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr17:66518200-66537600	Strong transcription	Primary T cells from cord blood	blood
8	chr17:66518200-66537800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr17:66518600-66537200	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:66518600-66538200	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr17:66519000-66537200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr17:66519800-66537800	Strong transcription	Brain Anterior Caudate	brain
13	chr17:66520400-66539800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:66523200-66542200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr17:66523600-66538800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr17:66525400-66538600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr17:66526000-66539400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:66526600-66539800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr17:66526800-66540600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr17:66527600-66554200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr17:66527800-66538400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:66529800-66537400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr17:66530200-66537200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr17:66530800-66539200	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr17:66531200-66552400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr17:66531400-66537400	Strong transcription	Brain Hippocampus Middle	brain
27	chr17:66531400-66538800	Strong transcription	Fetal Stomach	stomach
28	chr17:66531400-66539200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr17:66531400-66540000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:66531600-66537800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:66531600-66538400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:66531800-66537400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:66531800-66540000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:66532000-66537400	Strong transcription	NHLF	lung
35	chr17:66532000-66537800	Strong transcription	Gastric	stomach
36	chr17:66532200-66537200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:66532200-66537800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr17:66532400-66537600	Weak transcription	Hela-S3	cervix
39	chr17:66532400-66538400	Weak transcription	HUVEC	blood vessel
40	chr17:66532400-66540200	Strong transcription	Osteobl	bone
41	chr17:66532600-66537400	Strong transcription	Fetal Intestine Small	intestine
42	chr17:66532600-66538200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr17:66532600-66538200	Weak transcription	Fetal Brain Male	brain
44	chr17:66532800-66538400	Weak transcription	Brain Angular Gyrus	brain
45	chr17:66532800-66539600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr17:66533000-66538200	Strong transcription	Fetal Intestine Large	intestine
47	chr17:66533000-66555200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:66533200-66539200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr17:66533400-66537600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr17:66533400-66538400	Strong transcription	Adipose Nuclei	Adipose

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