Variant report

Variant	rs324683
Chromosome Location	chr4:76740867-76740868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10009902	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10014281	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10025315	0.80[AMR][1000 genomes]
rs10028884	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10029110	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11729258	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13119659	0.93[ASN][1000 genomes]
rs1553984	0.84[AMR][1000 genomes]
rs226416	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280095	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2869174	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324682	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324685	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324689	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324692	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324695	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324707	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324708	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324711	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324715	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324716	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324717	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324718	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324721	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324724	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324725	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324737	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34385808	0.92[EUR][1000 genomes]
rs3853183	0.84[AMR][1000 genomes]
rs3853184	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3942252	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs436611	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs443952	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859550	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5020591	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6419115	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6531889	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6531902	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6531903	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67474106	0.90[EUR][1000 genomes]
rs6826858	0.81[EUR][1000 genomes]
rs6835819	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6842216	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6855321	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72651313	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7356270	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7356310	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7657871	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7662940	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7674063	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7677150	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7691385	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7696241	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7698393	0.83[EUR][1000 genomes]
rs9942164	0.80[AMR][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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76736200-76743400	Weak transcription	Fetal Brain Male	brain
2	chr4:76736400-76742200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:76736400-76743600	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:76736400-76744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:76736600-76741200	Weak transcription	Aorta	Aorta
6	chr4:76736600-76741400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:76736600-76741400	Weak transcription	HepG2	liver
8	chr4:76736600-76742000	Weak transcription	Esophagus	oesophagus
9	chr4:76736600-76743400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:76736600-76743600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:76736600-76743600	Weak transcription	Gastric	stomach
12	chr4:76736600-76744600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:76736600-76763200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:76736800-76741200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:76736800-76742400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:76736800-76742400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr4:76736800-76742400	Weak transcription	HMEC	breast
18	chr4:76736800-76743400	Weak transcription	Fetal Heart	heart
19	chr4:76736800-76743400	Weak transcription	Left Ventricle	heart
20	chr4:76736800-76745000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:76736800-76745000	Weak transcription	Ovary	ovary
22	chr4:76736800-76745000	Weak transcription	K562	blood
23	chr4:76736800-76746400	Weak transcription	Brain Anterior Caudate	brain
24	chr4:76736800-76753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:76737000-76741000	Weak transcription	Fetal Brain Female	brain
26	chr4:76737000-76741800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:76737000-76745200	Weak transcription	Fetal Lung	lung
28	chr4:76737000-76753000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr4:76737200-76743800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr4:76737400-76741400	Weak transcription	Adipose Nuclei	Adipose
31	chr4:76737400-76745000	Weak transcription	Fetal Intestine Small	intestine
32	chr4:76737600-76751000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr4:76738000-76743200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr4:76738000-76743400	Weak transcription	Lung	lung
35	chr4:76738200-76741200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:76738200-76743200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:76738200-76743200	Weak transcription	A549	lung
38	chr4:76738200-76743600	Weak transcription	HSMM	muscle
39	chr4:76738200-76745000	Weak transcription	HSMMtube	muscle
40	chr4:76738200-76745200	Weak transcription	Osteobl	bone
41	chr4:76738200-76748400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:76738200-76753000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:76738400-76741000	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:76738400-76741200	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr4:76738400-76742000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr4:76738400-76744800	Weak transcription	NH-A	brain
47	chr4:76738400-76751800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:76738600-76743800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr4:76738600-76744000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:76738800-76741000	Weak transcription	Fetal Stomach	stomach

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