Variant report

Variant	rs4698117
Chromosome Location	chr4:15616481-15616482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10003739	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10008875	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10008889	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10012838	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10017295	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10020408	0.86[ASN][1000 genomes]
rs10022610	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10025837	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10026851	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10030313	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10031017	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10034328	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10939628	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1134634	0.89[ASN][1000 genomes]
rs11932730	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11933521	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11939541	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11942335	0.83[ASN][1000 genomes]
rs11943107	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11945626	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12509029	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12640192	0.86[ASN][1000 genomes]
rs12644327	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12645849	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12649803	0.81[ASN][1000 genomes]
rs13116304	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13121363	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1473166	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16892140	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16892152	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2041671	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2160044	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28419165	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28522268	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28528670	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28534607	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28661857	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3822298	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4235380	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4280723	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4280724	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4393989	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4583752	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4591601	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4642244	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4698403	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4698405	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4698408	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56041141	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57526178	0.85[EUR][1000 genomes]
rs60813847	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62290565	0.81[ASN][1000 genomes]
rs62290605	0.92[ASN][1000 genomes]
rs6449146	0.81[ASN][1000 genomes]
rs6449147	0.81[ASN][1000 genomes]
rs6449149	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6831286	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6839438	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73125606	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73127647	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7377825	0.91[ASN][1000 genomes]
rs741180	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs759212	0.80[ASN][1000 genomes]
rs7661102	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7665390	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7665915	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7682586	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7687010	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs872678	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv518830	chr4:15610771-15672200	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv3376437	chr4:15613963-15626944	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3464784	chr4:15613969-15626901	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3464785	chr4:15613969-15626901	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	2 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	chr4:15537400-15621000	Weak transcription	Hela-S3	cervix
2	chr4:15550000-15617800	Weak transcription	Thymus	Thymus
3	chr4:15565400-15621400	Weak transcription	Esophagus	oesophagus
4	chr4:15568400-15655600	Weak transcription	Gastric	stomach
5	chr4:15575200-15618000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:15589800-15621400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:15590600-15626400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:15593800-15621200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:15594600-15617800	Weak transcription	Right Ventricle	heart
10	chr4:15597200-15620600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr4:15600600-15620800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:15600800-15653000	Weak transcription	Colonic Mucosa	Colon
13	chr4:15601000-15651600	Weak transcription	Small Intestine	intestine
14	chr4:15602000-15626000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:15602200-15621200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:15602600-15655600	Weak transcription	Pancreas	Pancrea
17	chr4:15603000-15624400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:15603800-15626800	Weak transcription	NHLF	lung
19	chr4:15604200-15617800	Weak transcription	Spleen	Spleen
20	chr4:15604800-15617800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:15605400-15625800	Weak transcription	HMEC	breast
22	chr4:15605600-15620400	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:15605600-15624400	Weak transcription	K562	blood
24	chr4:15605800-15618400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:15605800-15621000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr4:15605800-15650200	Weak transcription	Stomach Mucosa	stomach
27	chr4:15606000-15621600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:15606000-15633800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:15606400-15618000	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:15606800-15620600	Weak transcription	Adipose Nuclei	Adipose
31	chr4:15607000-15620800	Weak transcription	A549	lung
32	chr4:15607200-15617800	Weak transcription	GM12878-XiMat	blood
33	chr4:15607200-15621200	Weak transcription	HUVEC	blood vessel
34	chr4:15607400-15620800	Weak transcription	HepG2	liver
35	chr4:15607400-15621200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:15607600-15621000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr4:15608800-15617800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:15610000-15621400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr4:15610400-15619600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:15610600-15618000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:15610600-15620400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr4:15612000-15623200	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr4:15612800-15625200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr4:15613200-15616800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr4:15613200-15617800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:15613200-15621200	Weak transcription	Osteobl	bone
47	chr4:15613400-15617800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:15613400-15620600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:15613400-15620600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:15613400-15620800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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