Variant report

Variant	rs60268357
Chromosome Location	chr7:33317767-33317768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:33317741-33317999	K562	blood:	n/a	n/a
2	CTCF	chr7:33317760-33317910	GM12871	blood:	n/a	n/a
3	ZNF143	chr7:33317748-33317931	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr7:33317717-33318032	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000224946	TF binding region

Extended variants
information (count: 152 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:146)

rs_ID	r²[population]
rs1019301	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10250448	0.87[ASN][1000 genomes]
rs10269945	0.82[ASN][1000 genomes]
rs10274959	0.82[ASN][1000 genomes]
rs1029852	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10486523	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10486525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10486527	0.89[ASN][1000 genomes]
rs1117311	0.84[AFR][1000 genomes]
rs11981364	0.89[ASN][1000 genomes]
rs11982012	0.89[ASN][1000 genomes]
rs12154760	0.87[ASN][1000 genomes]
rs12155389	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13235723	0.84[AFR][1000 genomes]
rs1362370	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16879114	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17169807	0.82[ASN][1000 genomes]
rs17169808	0.82[ASN][1000 genomes]
rs17170099	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17170104	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17170105	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17170120	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17170131	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17170138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17170140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17170143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17170145	0.84[AFR][1000 genomes]
rs17170155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17170167	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17170169	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17170173	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17170178	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17170189	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17170204	0.84[ASN][1000 genomes]
rs17170212	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17170217	0.89[ASN][1000 genomes]
rs17170219	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17170232	0.87[ASN][1000 genomes]
rs17170243	0.87[ASN][1000 genomes]
rs17170252	0.84[ASN][1000 genomes]
rs1833176	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1860601	0.87[ASN][1000 genomes]
rs2392229	0.82[ASN][1000 genomes]
rs34950347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750122	0.82[ASN][1000 genomes]
rs3828996	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4538777	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4628178	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55744824	0.85[ASN][1000 genomes]
rs55829345	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55847945	0.82[ASN][1000 genomes]
rs55865959	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55924837	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55934422	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56076132	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56195645	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56205706	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56343904	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57302264	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58365873	0.89[ASN][1000 genomes]
rs58435944	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58550767	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59075362	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59446325	0.82[ASN][1000 genomes]
rs59497572	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59674649	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60146993	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60491621	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60871858	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61312218	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61517720	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6462469	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6462474	0.89[ASN][1000 genomes]
rs6943198	0.82[ASN][1000 genomes]
rs6944559	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6944642	0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6945490	0.80[ASN][1000 genomes]
rs6951724	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6952244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955294	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6955645	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6961060	0.84[ASN][1000 genomes]
rs6962911	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6964836	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6969284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973114	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6973552	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975464	0.87[ASN][1000 genomes]
rs72496118	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73307386	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73307398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73307399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73307400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73307592	0.82[ASN][1000 genomes]
rs73309308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73309316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309324	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309326	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309328	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73309405	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73309423	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs73313121	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73313134	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73313138	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73313140	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73313148	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73313150	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73313177	0.89[ASN][1000 genomes]
rs73313187	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73313190	0.89[ASN][1000 genomes]
rs73313195	0.89[ASN][1000 genomes]
rs73313199	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73314906	0.80[ASN][1000 genomes]
rs73314908	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73314910	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73314915	0.85[ASN][1000 genomes]
rs73317008	0.84[ASN][1000 genomes]
rs73317017	0.84[ASN][1000 genomes]
rs73317492	0.82[ASN][1000 genomes]
rs73319406	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73319407	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73319408	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73688093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73689881	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7459365	0.82[ASN][1000 genomes]
rs7779777	0.84[ASN][1000 genomes]
rs7781504	0.82[ASN][1000 genomes]
rs7790483	0.89[ASN][1000 genomes]
rs7793667	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793862	0.83[AFR][1000 genomes]
rs7795704	0.82[ASN][1000 genomes]
rs7796922	0.82[ASN][1000 genomes]
rs7798118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7799346	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805883	0.84[ASN][1000 genomes]
rs7806348	0.89[ASN][1000 genomes]
rs7808472	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809235	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7809366	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7809399	0.80[EUR][1000 genomes]
rs9785048	0.89[ASN][1000 genomes]
rs9791555	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9791901	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830943	chr7:33167106-33352759	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv606610	chr7:33218763-33486316	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1016416	chr7:33241443-33559477	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv916660	chr7:33272493-33506384	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1792546	chr7:33304218-33346932	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv887925	chr7:33304218-33361323	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33311200-33325200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:33312000-33317800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:33313200-33328200	Weak transcription	Fetal Kidney	kidney
4	chr7:33314400-33318000	Weak transcription	Right Ventricle	heart
5	chr7:33314600-33318400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:33315000-33319800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr7:33315000-33325000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:33315200-33324200	Weak transcription	HSMMtube	muscle
9	chr7:33315400-33317800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:33316000-33318000	Strong transcription	Primary T cells from cord blood	blood
11	chr7:33316000-33318800	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr7:33316000-33318800	ZNF genes & repeats	Left Ventricle	heart
13	chr7:33316200-33317800	Strong transcription	Fetal Lung	lung
14	chr7:33316200-33318000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
15	chr7:33316200-33318600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
16	chr7:33316200-33319200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:33316400-33318800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr7:33316400-33319000	ZNF genes & repeats	Aorta	Aorta
19	chr7:33316800-33317800	Weak transcription	Ovary	ovary
20	chr7:33316800-33319000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
21	chr7:33317000-33318800	ZNF genes & repeats	Brain Hippocampus Middle	brain
22	chr7:33317000-33319600	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr7:33317000-33347600	Weak transcription	Pancreas	Pancrea
24	chr7:33317200-33318600	ZNF genes & repeats	Primary B cells from cord blood	blood
25	chr7:33317200-33318800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr7:33317400-33318000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
27	chr7:33317400-33318000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:33317400-33318800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
29	chr7:33317400-33319200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr7:33317600-33317800	Weak transcription	Fetal Stomach	stomach
31	chr7:33317600-33318400	ZNF genes & repeats	Fetal Brain Female	brain

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