Variant report

Variant	rs4689558
Chromosome Location	chr4:6920466-6920467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6848060..6850922-chr4:6918531..6921192,2	K562	blood:
2	chr4:6918420..6921735-chr4:6987729..6990156,3	MCF-7	breast:
3	chr4:6918931..6921040-chr4:6988107..6990008,2	MCF-7	breast:
4	chr4:6892678..6895514-chr4:6919772..6922371,2	K562	blood:
5	chr4:6918951..6920987-chr4:6946551..6948090,2	K562	blood:
6	chr4:6918829..6920609-chr4:6923833..6926676,3	MCF-7	breast:
7	chr4:6918904..6922027-chr4:6935797..6939427,3	K562	blood:
8	chr4:6918088..6920742-chr4:6973003..6977658,4	MCF-7	breast:
9	chr4:6919019..6922027-chr4:6936429..6940367,3	K562	blood:
10	chr4:6750069..6752754-chr4:6918064..6920984,3	MCF-7	breast:
11	chr4:6918292..6921152-chr4:7071780..7074246,2	MCF-7	breast:
12	chr4:6917201..6921579-chr4:6924492..6930074,6	MCF-7	breast:
13	chr4:6917668..6920987-chr4:6945472..6948090,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10009332	0.82[EUR][1000 genomes]
rs10012305	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10013211	0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs10015163	0.90[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap]
rs10019900	0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs10804990	0.81[ASW][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs10937762	0.93[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10937763	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10937766	0.85[ASN][1000 genomes]
rs10937768	0.90[JPT][hapmap]
rs10937771	0.82[EUR][1000 genomes]
rs11723686	0.84[EUR][1000 genomes]
rs11728984	0.95[JPT][hapmap]
rs11731681	0.83[EUR][1000 genomes]
rs11732389	0.81[CHD][hapmap];0.95[JPT][hapmap]
rs12119	0.83[MEX][hapmap]
rs12646620	0.85[ASN][1000 genomes]
rs12646621	0.85[ASN][1000 genomes]
rs12648134	0.83[MEX][hapmap]
rs12650200	0.83[MEX][hapmap]
rs12650264	0.83[MEX][hapmap]
rs13103361	0.85[ASN][1000 genomes]
rs13435015	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17742611	0.90[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs2301820	0.81[JPT][hapmap]
rs28463777	0.85[ASN][1000 genomes]
rs28523495	0.85[ASN][1000 genomes]
rs28601619	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28703753	0.90[ASN][1000 genomes]
rs34760356	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35296019	0.83[ASN][1000 genomes]
rs3857170	0.83[CHD][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs3892145	0.85[CHB][hapmap];0.85[CHD][hapmap];0.80[JPT][hapmap];0.91[MEX][hapmap];0.80[TSI][hapmap]
rs41516949	0.81[CHD][hapmap];0.95[JPT][hapmap]
rs4234787	0.83[ASN][1000 genomes]
rs4234790	0.87[EUR][1000 genomes]
rs4290891	0.84[ASN][1000 genomes]
rs4315786	0.85[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs4346651	0.90[JPT][hapmap]
rs4432749	0.95[JPT][hapmap];0.83[MEX][hapmap];0.81[AMR][1000 genomes]
rs4484301	0.95[JPT][hapmap]
rs4608812	0.89[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs4689562	0.85[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs4689572	0.82[JPT][hapmap];0.87[MEX][hapmap];0.80[TSI][hapmap]
rs6446552	0.95[JPT][hapmap]
rs6446553	0.95[JPT][hapmap]
rs6831368	0.90[JPT][hapmap]
rs6834007	0.81[EUR][1000 genomes]
rs6848114	0.95[JPT][hapmap]
rs6852468	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7657702	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7668673	0.81[JPT][hapmap]
rs7688690	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs9291121	0.85[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs9291122	0.85[ASN][1000 genomes]
rs9291123	0.90[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap]
rs9790586	0.90[JPT][hapmap]
rs9999127	0.82[EUR][1000 genomes]

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	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6912600-6925400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:6913200-6922600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr4:6913200-6925200	Weak transcription	NHLF	lung
4	chr4:6915200-6920800	Enhancers	Fetal Intestine Large	intestine
5	chr4:6915800-6921200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:6915800-6921400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:6916400-6920800	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr4:6916800-6920800	Enhancers	Lung	lung
9	chr4:6916800-6923200	Enhancers	Fetal Thymus	thymus
10	chr4:6917000-6920800	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:6917000-6920800	Enhancers	Adipose Nuclei	Adipose
12	chr4:6917000-6920800	Enhancers	Placenta	Placenta
13	chr4:6917000-6920800	Enhancers	Spleen	Spleen
14	chr4:6917000-6924200	Genic enhancers	Fetal Intestine Small	intestine
15	chr4:6917200-6920800	Enhancers	Fetal Muscle Leg	muscle
16	chr4:6917200-6920800	Enhancers	Small Intestine	intestine
17	chr4:6917200-6921000	Enhancers	Gastric	stomach
18	chr4:6917200-6922400	Enhancers	Fetal Stomach	stomach
19	chr4:6917200-6922600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr4:6917400-6920800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:6917800-6921400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr4:6918000-6920600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr4:6918000-6920800	Enhancers	Brain Hippocampus Middle	brain
24	chr4:6918000-6920800	Enhancers	Fetal Muscle Trunk	muscle
25	chr4:6918000-6920800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr4:6918200-6920800	Enhancers	Esophagus	oesophagus
27	chr4:6918200-6920800	Enhancers	Fetal Heart	heart
28	chr4:6918200-6921000	Enhancers	Fetal Lung	lung
29	chr4:6918400-6921200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr4:6918600-6920800	Enhancers	Brain Anterior Caudate	brain
31	chr4:6918600-6925000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:6918600-6925200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:6918600-6925200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:6918600-6925400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:6918800-6920600	Enhancers	GM12878-XiMat	blood
36	chr4:6918800-6925000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:6918800-6925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:6918800-6925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:6918800-6925400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:6919000-6921200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:6919000-6922000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr4:6919000-6924000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr4:6919000-6925200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr4:6919000-6925200	Weak transcription	NHEK	skin
45	chr4:6919000-6928000	Weak transcription	Fetal Kidney	kidney
46	chr4:6919200-6921400	Enhancers	Primary hematopoietic stem cells	blood
47	chr4:6919200-6923200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:6919200-6925400	Weak transcription	HSMMtube	muscle
49	chr4:6919400-6920800	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr4:6919400-6920800	Enhancers	Duodenum Smooth Muscle	Duodenum

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