Variant report

Variant	rs4760228
Chromosome Location	chr12:57761103-57761104
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57760407..57763357-chr12:57823258..57826608,3	K562	blood:

Variant related genes	Relation type
ENSG00000258001	Chromatin interaction
ENSG00000179912	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10747777	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10747778	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10783818	0.82[AMR][1000 genomes]
rs10783819	0.82[AMR][1000 genomes]
rs10783820	0.83[AMR][1000 genomes]
rs10783823	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876976	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10876977	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10876978	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10876980	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10876981	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10876983	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172165	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11172169	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11172170	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11172177	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11172190	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11172191	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172205	0.85[EUR][1000 genomes]
rs11172211	0.86[EUR][1000 genomes]
rs11172214	0.83[EUR][1000 genomes]
rs12230111	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12296766	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12310220	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12423654	0.82[EUR][1000 genomes]
rs12582640	0.82[ASN][1000 genomes]
rs12812140	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1798710	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2063778	0.85[EUR][1000 genomes]
rs28504983	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35032945	0.83[EUR][1000 genomes]
rs4075325	0.82[AMR][1000 genomes]
rs4108243	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760193	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4760236	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760244	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4760305	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4760306	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4760308	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4760348	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4760356	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4760357	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs481196	0.85[EUR][1000 genomes]
rs491750	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs492749	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs512223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs533975	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs537482	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs543410	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs560048	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs568793	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs575153	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6581131	0.82[AMR][1000 genomes]
rs6581134	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6581135	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6581136	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6581139	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7132367	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7133366	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7133939	0.82[AMR][1000 genomes]
rs7135142	0.82[AMR][1000 genomes]
rs7298418	0.86[AMR][1000 genomes]
rs7303070	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307059	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7309659	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7313824	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7314266	0.84[AMR][1000 genomes]
rs7358684	0.82[AMR][1000 genomes]
rs7398058	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7975649	0.82[ASN][1000 genomes]
rs7977908	0.84[AMR][1000 genomes]
rs7980310	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9738004	0.81[ASN][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	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57694000-57780000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:57695200-57794600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:57699800-57762400	Weak transcription	Left Ventricle	heart
4	chr12:57704400-57789200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:57722000-57765200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:57722800-57771200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:57722800-57786200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:57727200-57764400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:57728000-57766600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:57731400-57789800	Weak transcription	Small Intestine	intestine
11	chr12:57731600-57796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:57732800-57771800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:57733600-57762400	Weak transcription	Thymus	Thymus
14	chr12:57734200-57779400	Weak transcription	Spleen	Spleen
15	chr12:57735200-57764400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:57736400-57765600	Weak transcription	Ovary	ovary
17	chr12:57736400-57784200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:57736400-57795000	Weak transcription	Right Ventricle	heart
19	chr12:57736600-57782000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:57736600-57782400	Weak transcription	HSMM	muscle
21	chr12:57736600-57782800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:57736800-57764400	Weak transcription	HSMMtube	muscle
23	chr12:57736800-57766000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:57740400-57784000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr12:57741200-57765000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:57741200-57782800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:57742000-57762400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr12:57742400-57785800	Weak transcription	Fetal Brain Female	brain
29	chr12:57745000-57762600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:57745000-57787800	Weak transcription	Placenta	Placenta
31	chr12:57745200-57762000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:57745200-57765600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:57745400-57772200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:57749400-57765400	Weak transcription	Brain Angular Gyrus	brain
35	chr12:57749800-57765400	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:57750800-57762000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
38	chr12:57753600-57764600	Weak transcription	Colon Smooth Muscle	Colon
39	chr12:57754000-57762000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:57755800-57770000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr12:57756200-57762000	Weak transcription	Liver	Liver
42	chr12:57756600-57771000	Weak transcription	K562	blood
43	chr12:57758800-57764600	Weak transcription	Osteobl	bone
44	chr12:57759200-57761400	ZNF genes & repeats	A549	lung
45	chr12:57759400-57761400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:57759600-57761400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr12:57759800-57761400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:57759800-57761400	Strong transcription	Primary B cells from cord blood	blood
49	chr12:57759800-57761400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr12:57759800-57761400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain

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