Variant report

Variant	rs17086109
Chromosome Location	chr4:56748045-56748046
allele	A/G
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	SETDB1	chr4:56748041-56748290	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
RNU6-652P	TF binding region
EXOC1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10517360	1.00[EUR][1000 genomes]
rs11931435	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17086064	1.00[EUR][1000 genomes]
rs28729169	1.00[EUR][1000 genomes]
rs34534175	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58144170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58187701	1.00[AMR][1000 genomes]
rs61006657	1.00[EUR][1000 genomes]
rs73151521	1.00[EUR][1000 genomes]
rs73817250	1.00[AMR][1000 genomes]
rs73817260	1.00[AMR][1000 genomes]
rs73817261	1.00[AMR][1000 genomes]
rs73817262	1.00[AMR][1000 genomes]
rs73817263	1.00[AMR][1000 genomes]
rs73817265	1.00[AMR][1000 genomes]
rs73817266	1.00[AMR][1000 genomes]
rs73817267	1.00[AMR][1000 genomes]
rs73817268	1.00[AMR][1000 genomes]
rs73817269	1.00[AMR][1000 genomes]
rs73817270	1.00[AMR][1000 genomes]
rs73817271	1.00[AMR][1000 genomes]
rs73817293	1.00[EUR][1000 genomes]
rs73817296	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73817297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7674731	1.00[EUR][1000 genomes]
rs7682060	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	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
6	nsv879024	chr4:56742205-56786589	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv879025	chr4:56742205-56808607	Enhancers Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:56720400-56764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:56720800-56761800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:56721600-56774600	Weak transcription	Fetal Heart	heart
4	chr4:56724400-56752400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:56732600-56754000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:56733200-56763000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:56733600-56763000	Weak transcription	Stomach Mucosa	stomach
8	chr4:56733800-56772200	Weak transcription	Hela-S3	cervix
9	chr4:56733800-56772800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr4:56734400-56748800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr4:56734400-56749000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:56734400-56751200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr4:56734400-56773000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr4:56734600-56748600	Strong transcription	Primary B cells from cord blood	blood
15	chr4:56734600-56753400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:56734600-56773400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:56735000-56768000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:56735400-56750800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:56736000-56762400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:56737000-56774800	Weak transcription	Psoas Muscle	Psoas
21	chr4:56737600-56763400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:56738000-56771400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:56739800-56759800	Weak transcription	HMEC	breast
24	chr4:56741000-56748200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:56741000-56748600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:56742800-56748600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr4:56742800-56751800	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr4:56743000-56749000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr4:56743400-56751400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:56743400-56752000	Strong transcription	Placenta	Placenta
31	chr4:56743600-56748600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:56743600-56748800	Strong transcription	Liver	Liver
33	chr4:56743600-56751800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr4:56743600-56752600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:56743600-56752600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr4:56743800-56748600	Strong transcription	Fetal Lung	lung
37	chr4:56743800-56749600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:56743800-56752800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:56744000-56748400	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:56744000-56748600	Strong transcription	Brain Anterior Caudate	brain
41	chr4:56744000-56749000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr4:56744000-56749000	Strong transcription	Adipose Nuclei	Adipose
43	chr4:56744000-56749800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr4:56744200-56748200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:56744200-56748600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:56744200-56748800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:56744600-56748600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:56745200-56748600	Strong transcription	Colonic Mucosa	Colon
49	chr4:56745600-56760000	Weak transcription	Fetal Kidney	kidney
50	chr4:56745800-56757400	Weak transcription	Brain Substantia Nigra	brain

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