Variant report

Variant	rs4699718
Chromosome Location	chr4:100067791-100067792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100062982..100065976-chr4:100067343..100070151,2	K562	blood:

Variant related genes	Relation type
ENSG00000198099	Chromatin interaction

Extended variants
information (count: 194 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:186)

rs_ID	r²[population]
rs10017466	0.85[EUR][1000 genomes]
rs1042364	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1042365	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1126670	0.85[EUR][1000 genomes]
rs1126671	0.85[EUR][1000 genomes]
rs1126672	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1126673	0.83[EUR][1000 genomes]
rs1133485	0.86[AMR][1000 genomes]
rs1139490	0.84[EUR][1000 genomes]
rs1154405	0.83[AMR][1000 genomes]
rs1154406	0.83[AMR][1000 genomes]
rs1154410	0.83[AMR][1000 genomes]
rs12506256	0.82[AMR][1000 genomes]
rs13102874	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13107558	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13108999	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13110176	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13110764	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13112176	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13112733	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13113166	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1311615	0.83[AMR][1000 genomes]
rs1311616	0.83[AMR][1000 genomes]
rs1311617	0.83[AMR][1000 genomes]
rs1311618	0.83[AMR][1000 genomes]
rs1311619	0.83[AMR][1000 genomes]
rs13127153	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13127582	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13129488	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13132776	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13132999	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13133214	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13133633	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13133647	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13138294	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13140423	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13143133	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1377689	0.86[AMR][1000 genomes]
rs1453873	0.86[AMR][1000 genomes]
rs1453874	0.86[AMR][1000 genomes]
rs17217949	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218003	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218073	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218108	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218141	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218162	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218239	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218288	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218560	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17218602	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17817359	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17817868	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17817958	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1840228	0.86[AMR][1000 genomes]
rs1840230	0.86[AMR][1000 genomes]
rs1840231	0.86[AMR][1000 genomes]
rs1984362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1984364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2034696	0.86[AMR][1000 genomes]
rs2213035	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2602845	0.86[AMR][1000 genomes]
rs2602846	0.86[AMR][1000 genomes]
rs2602847	0.82[AMR][1000 genomes]
rs2602855	0.86[AMR][1000 genomes]
rs2602858	0.86[AMR][1000 genomes]
rs2602859	0.86[AMR][1000 genomes]
rs2602865	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2602866	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2602870	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2602872	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2602873	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2602875	0.80[EUR][1000 genomes]
rs2602876	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2602877	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2602878	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2602881	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2602882	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2602883	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2602887	0.83[AMR][1000 genomes]
rs2602888	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2602891	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2602893	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602894	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602895	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2602896	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2602897	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851246	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851247	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851248	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851249	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2851252	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2851253	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2851254	0.84[EUR][1000 genomes]
rs2851255	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2851256	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2851257	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2851258	0.82[EUR][1000 genomes]
rs2851260	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2851263	0.86[AMR][1000 genomes]
rs2851265	0.86[AMR][1000 genomes]
rs2851267	0.86[AMR][1000 genomes]
rs2851268	0.86[AMR][1000 genomes]
rs2851269	0.86[AMR][1000 genomes]
rs2851277	0.86[AMR][1000 genomes]
rs2851278	0.86[AMR][1000 genomes]
rs2851286	0.83[AMR][1000 genomes]
rs28987088	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28987097	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28987098	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28987100	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28987101	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28987102	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001183	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001194	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001195	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001196	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001199	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001201	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001202	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs29001203	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001208	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001209	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001211	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001212	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001214	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001215	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001216	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001217	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs29001223	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001224	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs29001229	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs29001231	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs29001232	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2924580	0.90[AMR][1000 genomes]
rs2924583	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2924586	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3018047	0.83[AMR][1000 genomes]
rs3018048	0.83[AMR][1000 genomes]
rs34071486	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34118841	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34360292	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34634551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34805407	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34876213	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34936974	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35062722	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35073321	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35146617	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35361391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35406734	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35491981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35662508	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35784540	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35797419	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35988291	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36034266	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3919370	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4235435	0.81[EUR][1000 genomes]
rs4235436	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4699710	0.85[EUR][1000 genomes]
rs4699712	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4699713	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4699714	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4699716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4699717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56222233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56272995	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56295995	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6532798	0.85[EUR][1000 genomes]
rs67311928	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6813415	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6822348	0.85[EUR][1000 genomes]
rs6822830	0.83[AMR][1000 genomes]
rs6831225	0.83[AMR][1000 genomes]
rs6831352	0.85[EUR][1000 genomes]
rs6837685	0.85[EUR][1000 genomes]
rs6848050	0.84[EUR][1000 genomes]
rs7434491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7669636	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7670060	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7670241	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7670638	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7672728	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7689753	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7694646	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9761048	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1002574	chr4:100023999-100133693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3528915	chr4:100025155-100096234	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3528916	chr4:100025155-100096234	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4699718	ADH5	cis	Whole Blood	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100035000-100098200	Weak transcription	Ovary	ovary
2	chr4:100056800-100082600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:100064000-100082600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:100065600-100068200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:100065600-100071600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:100065600-100096600	Weak transcription	Fetal Lung	lung
7	chr4:100066000-100068600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr4:100066200-100083200	Enhancers	Liver	Liver
9	chr4:100066400-100070600	Weak transcription	Small Intestine	intestine
10	chr4:100066600-100068800	Weak transcription	Fetal Intestine Small	intestine
11	chr4:100066600-100069000	Weak transcription	Fetal Intestine Large	intestine
12	chr4:100066600-100070600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr4:100066600-100071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:100066600-100082600	Weak transcription	Pancreas	Pancrea
15	chr4:100067400-100069200	Weak transcription	HepG2	liver

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