Variant report

Variant	rs12303119
Chromosome Location	chr12:45753214-45753215
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:45612938..45614519-chr12:45750771..45753564,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11182983	0.88[YRI][hapmap]
rs11182985	1.00[EUR][1000 genomes]
rs11182986	1.00[ASW][hapmap];0.88[YRI][hapmap]
rs11183020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183108	1.00[EUR][1000 genomes]
rs11183109	1.00[EUR][1000 genomes]
rs12298823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299652	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12299715	1.00[EUR][1000 genomes]
rs12312478	1.00[EUR][1000 genomes]
rs12313889	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12313957	1.00[EUR][1000 genomes]
rs12316100	1.00[EUR][1000 genomes]
rs12318053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318489	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59027429	1.00[EUR][1000 genomes]
rs6582560	1.00[EUR][1000 genomes]
rs9804810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9804811	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050923	chr12:45581310-45808289	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45723800-45757000	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:45725800-45782000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:45735400-45755200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr12:45738800-45754600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:45739000-45756000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr12:45740400-45755000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:45740800-45757600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:45741400-45755400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:45742800-45758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:45744800-45758800	Weak transcription	Psoas Muscle	Psoas
11	chr12:45744800-45809200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:45745000-45753800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:45745000-45754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:45745000-45756800	Weak transcription	Esophagus	oesophagus
15	chr12:45745000-45757000	Weak transcription	Spleen	Spleen
16	chr12:45745000-45762000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:45745000-45763600	Weak transcription	Pancreas	Pancrea
18	chr12:45745000-45763800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:45745000-45779800	Weak transcription	Gastric	stomach
20	chr12:45745200-45755200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:45745200-45755800	Weak transcription	HSMM	muscle
22	chr12:45745200-45756600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:45745400-45754200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:45745400-45755800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:45745400-45773000	Weak transcription	Hela-S3	cervix
26	chr12:45745600-45755400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr12:45745600-45755800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr12:45745600-45763800	Weak transcription	Fetal Brain Male	brain
29	chr12:45745600-45785600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:45747400-45754200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:45748000-45754000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:45748000-45754400	Strong transcription	Primary T cells from cord blood	blood
33	chr12:45748200-45753600	Strong transcription	Primary B cells from cord blood	blood
34	chr12:45748200-45754600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:45748400-45754800	Strong transcription	Fetal Thymus	thymus
36	chr12:45749000-45754400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:45749200-45754400	Strong transcription	Dnd41	blood
38	chr12:45749200-45757400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:45749400-45754000	Weak transcription	Aorta	Aorta
40	chr12:45749400-45754800	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:45749600-45754800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:45749800-45755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:45749800-45756600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:45749800-45756800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr12:45749800-45757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:45749800-45757000	Weak transcription	Lung	lung
47	chr12:45750000-45753400	Weak transcription	NHEK	skin
48	chr12:45750000-45754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:45750000-45757000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr12:45750000-45757000	Weak transcription	Placenta	Placenta

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