Variant report

Variant	rs6581141
Chromosome Location	chr12:57759827-57759828
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	chr12:57720831..57723778-chr12:57757889..57759918,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10735872	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10747779	0.82[AFR][1000 genomes]
rs10783817	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10783821	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11172210	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1669300	1.00[AMR][1000 genomes]
rs1709867	1.00[AMR][1000 genomes]
rs4760242	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs511225	1.00[AMR][1000 genomes]
rs6421187	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581132	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581133	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581137	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6581142	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7136699	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294847	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7488256	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs776336	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7963998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7975950	0.82[AFR][1000 genomes];1.00[AMR][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:73 , 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	chr12:57734400-57760000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr12:57735200-57764400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr12:57736400-57765600	Weak transcription	Ovary	ovary
18	chr12:57736400-57784200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:57736400-57795000	Weak transcription	Right Ventricle	heart
20	chr12:57736600-57782000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:57736600-57782400	Weak transcription	HSMM	muscle
22	chr12:57736600-57782800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr12:57736800-57764400	Weak transcription	HSMMtube	muscle
24	chr12:57736800-57766000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:57740400-57784000	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:57741000-57760200	Weak transcription	Fetal Thymus	thymus
27	chr12:57741200-57765000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:57741200-57782800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:57741800-57760200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr12:57742000-57762400	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr12:57742200-57760000	Weak transcription	Fetal Lung	lung
32	chr12:57742400-57785800	Weak transcription	Fetal Brain Female	brain
33	chr12:57742800-57760000	Weak transcription	Dnd41	blood
34	chr12:57745000-57762600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:57745000-57787800	Weak transcription	Placenta	Placenta
36	chr12:57745200-57762000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:57745200-57765600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:57745400-57772200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:57748800-57760000	Weak transcription	Fetal Muscle Leg	muscle
40	chr12:57749400-57765400	Weak transcription	Brain Angular Gyrus	brain
41	chr12:57749800-57765400	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:57750600-57761000	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr12:57750800-57762000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:57752800-57760400	Weak transcription	Right Atrium	heart
45	chr12:57753200-57823800	Weak transcription	Esophagus	oesophagus
46	chr12:57753600-57764600	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:57754000-57762000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr12:57754400-57760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:57755200-57760800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr12:57755400-57760400	Weak transcription	Primary monocytes fromperipheralblood	blood

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