Variant report

Variant	rs7133366
Chromosome Location	chr12:57744961-57744962
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57744019..57747994-chr12:57750649..57754146,3	K562	blood:
2	chr12:57633850..57636792-chr12:57743482..57745721,2	K562	blood:

Variant related genes	Relation type
ENSG00000185633	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10747777	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10747778	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10783818	0.83[AMR][1000 genomes]
rs10783819	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10783820	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10783823	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10876976	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10876977	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10876978	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10876981	0.80[EUR][1000 genomes]
rs11172160	0.80[EUR][1000 genomes]
rs11172165	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11172169	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11172170	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11172177	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12296766	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12310220	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12812140	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1798710	0.81[EUR][1000 genomes]
rs35032945	0.88[EUR][1000 genomes]
rs4075325	0.83[AMR][1000 genomes]
rs4108243	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4760193	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4760228	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4760236	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4760305	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4760306	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4760308	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4760348	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4760356	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4760357	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs491750	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs492749	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs512223	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs537482	0.81[EUR][1000 genomes]
rs575153	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6581131	0.83[AMR][1000 genomes]
rs6581134	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6581135	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6581136	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6581139	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7132367	0.81[EUR][1000 genomes]
rs7133939	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7135142	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7298418	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7303070	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7307059	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7309659	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7313824	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7314266	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7358684	0.83[AMR][1000 genomes]
rs7398058	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7975649	0.81[EUR][1000 genomes]
rs7977908	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7980310	0.81[AMR][1000 genomes];0.82[EUR][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:76 , 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	chr12:57697200-57745000	Weak transcription	Lung	lung
4	chr12:57699800-57762400	Weak transcription	Left Ventricle	heart
5	chr12:57704400-57789200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr12:57709800-57746800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:57713800-57745800	Weak transcription	Stomach Mucosa	stomach
8	chr12:57722000-57765200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr12:57722800-57771200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:57722800-57786200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:57726000-57759800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:57726600-57754200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:57727200-57745000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:57727200-57748200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:57727200-57764400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:57728000-57766600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:57728800-57746600	Weak transcription	Gastric	stomach
18	chr12:57731400-57789800	Weak transcription	Small Intestine	intestine
19	chr12:57731600-57796000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:57732800-57771800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:57733600-57745000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:57733600-57762400	Weak transcription	Thymus	Thymus
23	chr12:57734200-57779400	Weak transcription	Spleen	Spleen
24	chr12:57734400-57748400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:57734400-57760000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr12:57735200-57764400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:57735400-57749200	Weak transcription	Psoas Muscle	Psoas
28	chr12:57735600-57750000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr12:57736400-57765600	Weak transcription	Ovary	ovary
30	chr12:57736400-57784200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:57736400-57795000	Weak transcription	Right Ventricle	heart
32	chr12:57736600-57755000	Weak transcription	Brain Germinal Matrix	brain
33	chr12:57736600-57782000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr12:57736600-57782400	Weak transcription	HSMM	muscle
35	chr12:57736600-57782800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:57736800-57745000	Weak transcription	Fetal Brain Male	brain
37	chr12:57736800-57748000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:57736800-57759800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:57736800-57764400	Weak transcription	HSMMtube	muscle
40	chr12:57736800-57766000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr12:57740400-57784000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:57741000-57760200	Weak transcription	Fetal Thymus	thymus
43	chr12:57741200-57765000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:57741200-57782800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:57741800-57760200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr12:57742000-57748600	Weak transcription	A549	lung
47	chr12:57742000-57759800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:57742000-57759800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:57742000-57762400	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr12:57742200-57749400	Weak transcription	Primary B cells from cord blood	blood

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