Variant report

Variant	rs13125368
Chromosome Location	chr4:110388351-110388352
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:110381168..110383587-chr4:110385101..110388629,3	K562	blood:
2	chr4:110363846..110365519-chr4:110386986..110389569,2	MCF-7	breast:
3	chr4:110387620..110389236-chr4:110394728..110397410,2	K562	blood:
4	chr4:110384184..110389120-chr4:110389509..110396492,10	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10000545	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10002595	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10005355	0.92[ASN][1000 genomes]
rs10155127	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10516558	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11098033	0.82[ASN][1000 genomes]
rs11098035	0.90[ASN][1000 genomes]
rs11929713	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11930655	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933971	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11934486	0.82[ASN][1000 genomes]
rs11935440	0.86[ASN][1000 genomes]
rs11935629	0.82[ASN][1000 genomes]
rs11938593	0.86[ASN][1000 genomes]
rs11941344	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11942140	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11942291	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11942858	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11942928	0.86[ASN][1000 genomes]
rs11943384	0.86[ASN][1000 genomes]
rs11943430	0.86[ASN][1000 genomes]
rs11944375	0.86[ASN][1000 genomes]
rs11944427	0.86[ASN][1000 genomes]
rs11944659	0.82[ASN][1000 genomes]
rs12639832	0.82[ASN][1000 genomes]
rs12640049	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12640161	0.90[ASN][1000 genomes]
rs12642304	0.92[ASN][1000 genomes]
rs12643055	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12643844	0.92[ASN][1000 genomes]
rs12644055	0.86[ASN][1000 genomes]
rs12647695	0.86[ASN][1000 genomes]
rs12648138	0.88[ASN][1000 genomes]
rs12648965	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12650654	0.86[ASN][1000 genomes]
rs12650873	0.86[ASN][1000 genomes]
rs13103034	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13123618	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13128124	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13128221	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13134239	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13141701	0.92[ASN][1000 genomes]
rs13142698	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13143825	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13145066	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1509314	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1509315	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17040410	0.86[ASN][1000 genomes]
rs17040436	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17040439	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17040461	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17040488	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17040510	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28521972	0.92[ASN][1000 genomes]
rs28681408	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34153531	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34224638	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34274964	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34377662	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34441811	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34482781	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34505473	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34636377	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34836476	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35110951	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35359830	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35473144	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35594044	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35762958	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35791246	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35940980	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36009064	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36115572	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3775962	0.92[ASN][1000 genomes]
rs60957336	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61004219	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61242473	0.90[ASN][1000 genomes]
rs61439452	0.84[ASN][1000 genomes]
rs61553525	0.86[ASN][1000 genomes]
rs6533429	0.86[ASN][1000 genomes]
rs66642182	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66667140	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67473696	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68041341	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6812469	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6815455	0.90[ASN][1000 genomes]
rs6817954	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6818911	0.92[ASN][1000 genomes]
rs6823032	0.92[ASN][1000 genomes]
rs6827006	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6833753	0.90[ASN][1000 genomes]
rs6835683	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6837199	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6841198	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6845371	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6848452	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6851517	0.86[ASN][1000 genomes]
rs6852037	0.92[ASN][1000 genomes]
rs6856291	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6856446	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71603033	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71623653	0.81[AMR][1000 genomes]
rs72896619	0.90[ASN][1000 genomes]
rs72896622	0.90[ASN][1000 genomes]
rs72896625	0.90[ASN][1000 genomes]
rs72896629	0.90[ASN][1000 genomes]
rs72896632	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73838809	0.92[ASN][1000 genomes]
rs7436583	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7436745	0.86[ASN][1000 genomes]
rs7440371	0.86[ASN][1000 genomes]
rs7440570	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7675602	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7679836	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7680296	0.83[EUR][1000 genomes]
rs9985632	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9994676	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9994985	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9999570	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110363600-110398400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:110366000-110391400	Weak transcription	Small Intestine	intestine
3	chr4:110371400-110393200	Weak transcription	Stomach Mucosa	stomach
4	chr4:110371600-110393400	Weak transcription	HSMMtube	muscle
5	chr4:110378800-110415800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:110382800-110390400	Strong transcription	NH-A	brain
7	chr4:110383400-110396000	Strong transcription	Fetal Thymus	thymus
8	chr4:110383400-110397600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr4:110383600-110391600	Weak transcription	Psoas Muscle	Psoas
10	chr4:110383600-110392000	Strong transcription	HSMM	muscle
11	chr4:110383800-110389400	Strong transcription	Primary hematopoietic stem cells	blood
12	chr4:110384800-110392800	Weak transcription	Hela-S3	cervix
13	chr4:110384800-110399800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:110384800-110401000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:110385000-110393000	Weak transcription	A549	lung
16	chr4:110385200-110392000	Weak transcription	NHEK	skin
17	chr4:110385400-110402800	Weak transcription	Brain Germinal Matrix	brain
18	chr4:110385400-110403000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:110385600-110391400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:110385600-110391400	Weak transcription	Ovary	ovary
21	chr4:110385600-110391600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:110385600-110391600	Weak transcription	Pancreas	Pancrea
23	chr4:110385600-110392200	Weak transcription	Left Ventricle	heart
24	chr4:110385600-110415800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:110385600-110415800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:110385600-110415800	Weak transcription	Esophagus	oesophagus
27	chr4:110385800-110391600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:110385800-110391600	Weak transcription	Fetal Stomach	stomach
29	chr4:110385800-110393400	Weak transcription	Aorta	Aorta
30	chr4:110385800-110398200	Weak transcription	Fetal Intestine Small	intestine
31	chr4:110385800-110415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr4:110385800-110415800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:110385800-110415800	Weak transcription	Colonic Mucosa	Colon
34	chr4:110386000-110393000	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:110386000-110395200	Weak transcription	Fetal Kidney	kidney
36	chr4:110386000-110415800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr4:110386200-110389200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:110386200-110391600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:110386200-110391600	Weak transcription	Gastric	stomach
40	chr4:110386200-110393000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:110386200-110393200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr4:110386200-110415800	Weak transcription	Lung	lung
43	chr4:110386200-110415800	Weak transcription	Spleen	Spleen
44	chr4:110386400-110389000	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr4:110386400-110389600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr4:110386400-110391200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:110386400-110391400	Weak transcription	Thymus	Thymus
48	chr4:110386400-110398400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr4:110386400-110413600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr4:110386400-110415600	Weak transcription	H1 Cell Line	embryonic stem cell

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