Variant report

Variant	rs17583558
Chromosome Location	chr4:106102406-106102407
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr4:106102079-106102966	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr4:106102315-106102743	H1-neurons	neurons:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:106066588..106068608-chr4:106102134..106104288,2	MCF-7	breast:
2	chr4:106094476..106097193-chr4:106102038..106103844,2	K562	blood:
3	chr14:52116526..52119230-chr4:106099559..106102475,2	MCF-7	breast:
4	chr4:106100162..106102870-chr4:106177056..106179068,2	K562	blood:
5	chr4:106064646..106070521-chr4:106098298..106104512,9	MCF-7	breast:

No data

Variant related genes	Relation type
TET2-AS1	TF binding region
ENSG00000168769	Chromatin interaction
ENSG00000139926	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10010281	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10014102	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1015521	0.87[JPT][hapmap];0.80[ASN][1000 genomes]
rs12643257	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12645165	0.88[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1391438	0.87[JPT][hapmap]
rs1391441	0.87[JPT][hapmap]
rs2047408	0.87[JPT][hapmap]
rs2285720	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs2647249	0.89[ASN][1000 genomes]
rs2647256	0.90[ASN][1000 genomes]
rs2726461	0.90[ASN][1000 genomes]
rs2726492	0.91[ASN][1000 genomes]
rs28493806	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2903386	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35515350	0.93[ASN][1000 genomes]
rs7655890	0.87[JPT][hapmap]
rs974801	0.84[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9884482	0.81[CEU][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs988799	0.82[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs992493	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106069400-106114200	Weak transcription	Esophagus	oesophagus
2	chr4:106070400-106107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:106070400-106111600	Weak transcription	Placenta	Placenta
4	chr4:106077000-106112000	Weak transcription	Aorta	Aorta
5	chr4:106078000-106112800	Weak transcription	Fetal Kidney	kidney
6	chr4:106080600-106102800	Weak transcription	NHEK	skin
7	chr4:106080600-106105800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:106080600-106107800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:106083600-106109200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:106083800-106104800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:106083800-106111400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:106084000-106105000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:106084800-106127400	Weak transcription	Brain Germinal Matrix	brain
14	chr4:106085600-106112800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:106086000-106105600	Weak transcription	Fetal Lung	lung
16	chr4:106090400-106105600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:106090600-106107000	Weak transcription	NH-A	brain
18	chr4:106092000-106105800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:106092000-106110600	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:106093800-106111200	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr4:106093800-106112400	Weak transcription	Primary B cells from cord blood	blood
22	chr4:106094000-106112600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:106096200-106111600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:106096400-106111200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr4:106096600-106107200	Weak transcription	Psoas Muscle	Psoas
26	chr4:106097400-106105800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:106097600-106105600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr4:106098000-106111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr4:106098200-106103400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr4:106098200-106113200	Weak transcription	Fetal Stomach	stomach
31	chr4:106098400-106102600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr4:106099000-106114200	Weak transcription	Gastric	stomach
33	chr4:106100800-106103800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr4:106100800-106108000	Weak transcription	Osteobl	bone
35	chr4:106101000-106103400	Weak transcription	Stomach Mucosa	stomach
36	chr4:106101000-106103400	Weak transcription	HMEC	breast
37	chr4:106101000-106103600	Enhancers	Fetal Heart	heart
38	chr4:106101000-106103800	Enhancers	Fetal Intestine Large	intestine
39	chr4:106101000-106105800	Weak transcription	Left Ventricle	heart
40	chr4:106101000-106146600	Weak transcription	Spleen	Spleen
41	chr4:106101200-106102600	Enhancers	Colon Smooth Muscle	Colon
42	chr4:106101200-106105200	Weak transcription	Small Intestine	intestine
43	chr4:106101200-106105600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr4:106101200-106112600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:106101200-106112800	Weak transcription	NHDF-Ad	bronchial
46	chr4:106101400-106104800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:106101400-106105400	Weak transcription	HepG2	liver
48	chr4:106101400-106105800	Weak transcription	Adipose Nuclei	Adipose
49	chr4:106101400-106112200	Weak transcription	Right Atrium	heart
50	chr4:106101600-106105400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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