Variant report

Variant	rs7667689
Chromosome Location	chr4:129133782-129133783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10001048	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1001503	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10019554	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10019840	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10434053	0.88[AFR][1000 genomes]
rs11098951	0.86[EUR][1000 genomes]
rs11723915	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11727049	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11737026	0.90[EUR][1000 genomes]
rs12498291	0.90[EUR][1000 genomes]
rs12645577	0.81[AFR][1000 genomes]
rs12648962	0.80[ASN][1000 genomes]
rs13136665	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs13137866	0.87[ASN][1000 genomes]
rs1545711	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1809796	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1809797	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1908450	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs1908451	0.86[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2056470	0.89[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs2061572	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2126112	0.81[ASN][1000 genomes]
rs2204117	0.90[EUR][1000 genomes]
rs34021656	0.83[AFR][1000 genomes]
rs34816181	0.81[AFR][1000 genomes]
rs34848208	0.87[ASN][1000 genomes]
rs35239105	0.82[AFR][1000 genomes]
rs4493552	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4834231	0.80[ASN][1000 genomes]
rs55720227	0.85[AFR][1000 genomes]
rs55849105	0.84[AFR][1000 genomes]
rs62321076	0.88[EUR][1000 genomes]
rs62336165	0.87[AFR][1000 genomes]
rs6534665	0.80[ASN][1000 genomes]
rs6534669	0.87[EUR][1000 genomes]
rs6534672	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6534673	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6811718	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6849865	0.90[EUR][1000 genomes]
rs6850479	0.83[AFR][1000 genomes]
rs7667562	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671131	0.80[ASN][1000 genomes]
rs7686130	0.81[ASN][1000 genomes]

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	nsv879915	chr4:128167093-129150590	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv1792644	chr4:128566686-129133826	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1795770	chr4:128566686-129145581	Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3416036	chr4:128782694-129133956	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	esv1792524	chr4:128983925-129133826	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv879929	chr4:129029653-129142079	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129098400-129141200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:129108200-129149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:129108400-129136000	Weak transcription	Lung	lung
4	chr4:129110400-129134200	Weak transcription	Small Intestine	intestine
5	chr4:129113000-129141400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:129113200-129141400	Weak transcription	A549	lung
7	chr4:129119200-129134800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:129119200-129134800	Weak transcription	Spleen	Spleen
9	chr4:129119600-129135000	Strong transcription	Liver	Liver
10	chr4:129120000-129141800	Weak transcription	HMEC	breast
11	chr4:129122400-129134000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:129122400-129134600	Weak transcription	Right Atrium	heart
13	chr4:129122600-129134600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:129122600-129135800	Weak transcription	Right Ventricle	heart
15	chr4:129122800-129135000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:129122800-129135200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:129122800-129135800	Weak transcription	Fetal Lung	lung
18	chr4:129122800-129141200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:129122800-129141200	Weak transcription	NHDF-Ad	bronchial
20	chr4:129122800-129141400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:129122800-129141400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:129122800-129149000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:129123000-129134000	Weak transcription	Placenta	Placenta
24	chr4:129123000-129134200	Weak transcription	Esophagus	oesophagus
25	chr4:129123000-129134400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:129123000-129135800	Weak transcription	Gastric	stomach
27	chr4:129123000-129138400	Weak transcription	Ovary	ovary
28	chr4:129123000-129141400	Weak transcription	HUVEC	blood vessel
29	chr4:129123000-129141800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:129123000-129144800	Weak transcription	Left Ventricle	heart
31	chr4:129123000-129145800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr4:129123000-129149000	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:129123000-129149400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr4:129123600-129141200	Weak transcription	Osteobl	bone
35	chr4:129123600-129141600	Weak transcription	NH-A	brain
36	chr4:129124000-129141400	Weak transcription	HSMM	muscle
37	chr4:129124400-129137200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr4:129126600-129135800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:129128200-129141400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:129128200-129149200	Weak transcription	Aorta	Aorta
41	chr4:129128400-129141800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:129128400-129149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:129129800-129134000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:129129800-129149000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr4:129130000-129141200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:129130800-129149600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr4:129133200-129133800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:129133200-129133800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:129133200-129134200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
50	chr4:129133200-129134400	ZNF genes & repeats	Fetal Intestine Small	intestine

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