Variant report

Variant	rs2264841
Chromosome Location	chr12:104466478-104466479
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	chr12:104461547..104463720-chr12:104464282..104467136,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2253274	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2261693	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2700511	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2723854	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2723866	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4131751	0.84[EUR][1000 genomes]
rs4146833	0.84[EUR][1000 genomes]
rs7135603	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7310193	0.88[EUR][1000 genomes];0.84[ASN][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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459200-104480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:104459200-104480600	Weak transcription	Esophagus	oesophagus
3	chr12:104459400-104476600	Weak transcription	Fetal Kidney	kidney
4	chr12:104459600-104476600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:104459600-104476600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:104459600-104481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:104459800-104476600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:104459800-104476800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:104459800-104477400	Weak transcription	Gastric	stomach
10	chr12:104459800-104477600	Weak transcription	Small Intestine	intestine
11	chr12:104459800-104477800	Weak transcription	Spleen	Spleen
12	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:104460000-104468400	Strong transcription	Fetal Lung	lung
14	chr12:104460000-104476000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:104460000-104476600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:104460000-104476600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:104460000-104476600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:104460000-104476800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:104460000-104477600	Weak transcription	Aorta	Aorta
20	chr12:104460000-104482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:104460000-104496800	Weak transcription	HepG2	liver
22	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
23	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
24	chr12:104460200-104468200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:104460200-104472600	Weak transcription	Fetal Heart	heart
26	chr12:104460200-104476600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:104460200-104476600	Weak transcription	NHEK	skin
28	chr12:104460400-104468400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:104460600-104466600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:104460600-104468200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr12:104460600-104469200	Weak transcription	Psoas Muscle	Psoas
32	chr12:104460600-104469400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:104460600-104469600	Strong transcription	Fetal Muscle Leg	muscle
34	chr12:104460600-104476600	Weak transcription	Brain Angular Gyrus	brain
35	chr12:104460600-104480600	Weak transcription	K562	blood
36	chr12:104460800-104472600	Weak transcription	Pancreas	Pancrea
37	chr12:104461000-104468200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr12:104461000-104468200	Strong transcription	Osteobl	bone
39	chr12:104461200-104471800	Weak transcription	HSMMtube	muscle
40	chr12:104461200-104492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:104461400-104467400	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:104461400-104476600	Weak transcription	Fetal Brain Male	brain
43	chr12:104461800-104468000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:104461800-104472800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:104461800-104476800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:104462000-104476600	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:104462200-104468200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr12:104462400-104468400	Strong transcription	Fetal Stomach	stomach
49	chr12:104462600-104468400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:104462600-104471400	Weak transcription	NH-A	brain

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