Variant report

Variant	rs17086086
Chromosome Location	chr4:56686049-56686050
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr4:56685782-56686223	K562	blood:	n/a	n/a
2	TAF7	chr4:56685769-56686083	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr4:56685732-56686182	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr4:56685744-56686167	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr4:56685749-56686157	H1-hESC	embryonic stem cell:	n/a	n/a
6	CREB1	chr4:56685694-56686203	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr4:56685871-56686174	K562	blood:	n/a	n/a
8	YY1	chr4:56685749-56686111	H1-hESC	embryonic stem cell:	n/a	chr4:56685960-56685974
9	CTCF	chr4:56685920-56686070	HBMEC	blood vessel:	n/a	n/a
10	NANOG	chr4:56685804-56686138	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr4:56685805-56686051	K562	blood:	n/a	n/a
12	GTF2F1	chr4:56685854-56686134	H1-hESC	embryonic stem cell:	n/a	n/a
13	RAD21	chr4:56685694-56686099	H1-hESC	embryonic stem cell:	n/a	n/a
14	TEAD4	chr4:56685808-56686248	H1-hESC	embryonic stem cell:	n/a	n/a
15	ZNF384	chr4:56685949-56686127	K562	blood:	n/a	n/a
16	MYC	chr4:56685842-56686361	K562	blood:	n/a	n/a
17	CTCF	chr4:56686000-56686150	NHLF	lung:	n/a	n/a
18	CTCF	chr4:56685796-56686095	K562	blood:	n/a	n/a
19	SIN3A	chr4:56685803-56686168	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr4:56685550-56686215	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr4:56685920-56686070	HRE	kidney:	n/a	n/a
22	CTCF	chr4:56685960-56686110	HCM	heart:	n/a	n/a
23	YY1	chr4:56685661-56686181	H1-hESC	embryonic stem cell:	n/a	chr4:56685960-56685974
24	CTCF	chr4:56685797-56686112	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr4:56685900-56686050	HEK293	kidney:	n/a	n/a
26	TAF1	chr4:56685768-56686166	H1-hESC	embryonic stem cell:	n/a	n/a
27	TBP	chr4:56685672-56686240	K562	blood:	n/a	n/a
28	TAF1	chr4:56685690-56686270	H1-hESC	embryonic stem cell:	n/a	n/a
29	HCFC1	chr4:56685823-56686175	K562	blood:	n/a	n/a
30	UBTF	chr4:56685745-56686106	K562	blood:	n/a	n/a
31	RCOR1	chr4:56686046-56686186	K562	blood:	n/a	n/a
32	CTCF	chr4:56685940-56686090	HRPEpiC	eye:	n/a	n/a
33	TAF7	chr4:56685688-56686155	H1-hESC	embryonic stem cell:	n/a	n/a
34	KAP1	chr4:56685758-56686257	HEK293	kidney:	n/a	n/a
35	POLR2A	chr4:56685738-56686094	H1-hESC	embryonic stem cell:	n/a	n/a
36	CCNT2	chr4:56685885-56686202	K562	blood:	n/a	n/a
37	KAP1	chr4:56685771-56686190	U2OS	brain:	n/a	n/a
38	CTCF	chr4:56685775-56686058	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr4:56685795-56686136	K562	blood:	n/a	n/a
40	POLR2A	chr4:56686038-56686052	K562	blood:	n/a	n/a
41	ZNF143	chr4:56685766-56686168	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr4:56685900-56686050	HPAF	blood vessel:	n/a	n/a
43	CTCF	chr4:56686020-56686170	HAc	cerebellar:	n/a	n/a
44	JUND	chr4:56685838-56686350	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF2	chr4:56685758-56686253	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr4:56685719-56686162	H1-hESC	embryonic stem cell:	n/a	n/a
47	BHLHE40	chr4:56685775-56686179	K562	blood:	n/a	chr4:56685960-56685976 chr4:56685971-56685987
48	ZBTB7A	chr4:56685826-56686077	K562	blood:	n/a	chr4:56685843-56685854 chr4:56685844-56685855
49	RAD21	chr4:56685811-56686138	SK-N-SH_RA	brain:	n/a	n/a
50	MAZ	chr4:56685760-56686171	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:56685462..56686090-chr4:56732810..56733473,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250821	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10013329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10024279	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10027961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12640617	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12640685	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1374515	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17086122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17086160	0.89[ASN][1000 genomes]
rs17797407	1.00[CEU][hapmap]
rs17797571	1.00[CEU][hapmap]
rs17797595	1.00[CEU][hapmap]
rs2702323	1.00[CHB][hapmap]
rs2702331	1.00[JPT][hapmap]
rs2702344	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2702348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28416783	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28892935	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6817951	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6856461	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs719007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7674801	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7675164	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[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	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv10496	chr4:56336946-56841137	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv998179	chr4:56425126-56694339	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1005845	chr4:56522075-56980357	Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	esv3406311	chr4:56580578-56840877	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv427681	chr4:56651921-56908209	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56685600-56686200	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr4:56685600-56686200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:56685600-56686200	Active TSS	Cortex derived primary cultured neurospheres	brain
4	chr4:56685600-56686200	Active TSS	Brain Anterior Caudate	brain
5	chr4:56685600-56686200	Enhancers	Placenta	Placenta
6	chr4:56685600-56686400	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr4:56685600-56686400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr4:56685600-56686400	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr4:56685600-56686400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:56685600-56686400	Active TSS	Right Atrium	heart
11	chr4:56685600-56686600	Active TSS	K562	blood
12	chr4:56685600-56686800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr4:56685600-56686800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:56685600-56686800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:56685800-56686200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:56685800-56686200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr4:56685800-56686200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:56685800-56686200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr4:56685800-56686200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr4:56685800-56686200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr4:56685800-56686200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:56685800-56686200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:56685800-56686200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:56685800-56686200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:56685800-56686200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
26	chr4:56685800-56686200	Active TSS	Brain Germinal Matrix	brain
27	chr4:56685800-56686200	Active TSS	Colonic Mucosa	Colon
28	chr4:56685800-56686200	Enhancers	Esophagus	oesophagus
29	chr4:56685800-56686200	Bivalent Enhancer	Fetal Thymus	thymus
30	chr4:56685800-56686200	Enhancers	Pancreas	Pancrea
31	chr4:56685800-56686200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
32	chr4:56685800-56686200	Bivalent/Poised TSS	HSMM	muscle
33	chr4:56685800-56686200	Bivalent/Poised TSS	HSMMtube	muscle
34	chr4:56685800-56686200	Bivalent/Poised TSS	NH-A	brain
35	chr4:56685800-56686200	Active TSS	Osteobl	bone
36	chr4:56685800-56686400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr4:56685800-56686400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:56685800-56686400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr4:56685800-56686400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:56685800-56686400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr4:56685800-56686400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr4:56685800-56686400	Active TSS	Aorta	Aorta
43	chr4:56685800-56686400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr4:56685800-56686400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:56685800-56686400	Bivalent Enhancer	Fetal Heart	heart
46	chr4:56685800-56686400	Active TSS	Ovary	ovary
47	chr4:56685800-56686400	Active TSS	HMEC	breast
48	chr4:56686000-56686200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr4:56686000-56686200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:56686000-56686200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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