Variant report

Variant	rs60679254
Chromosome Location	chr12:48515102-48515103
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	chr12:48498567..48501846-chr12:48512929..48518601,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152556	Chromatin interaction
ENSG00000079387	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10128967	1.00[ASN][1000 genomes]
rs10128968	1.00[ASN][1000 genomes]
rs10506279	1.00[ASN][1000 genomes]
rs11835938	1.00[ASN][1000 genomes]
rs12301562	1.00[ASN][1000 genomes]
rs12316682	1.00[ASN][1000 genomes]
rs2450995	1.00[ASN][1000 genomes]
rs41291963	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41291967	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55820056	1.00[ASN][1000 genomes]
rs57956448	1.00[ASN][1000 genomes]
rs58317398	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60209369	1.00[ASN][1000 genomes]
rs73304917	1.00[ASN][1000 genomes]
rs74089110	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089159	1.00[ASN][1000 genomes]
rs74089163	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48512400-48515400	Active TSS	Brain Angular Gyrus	brain
2	chr12:48512600-48516400	Active TSS	Right Atrium	heart
3	chr12:48512800-48515200	Active TSS	Left Ventricle	heart
4	chr12:48512800-48515800	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr12:48513400-48524800	Weak transcription	Liver	Liver
6	chr12:48513400-48526600	Weak transcription	Spleen	Spleen
7	chr12:48513600-48516000	Weak transcription	Small Intestine	intestine
8	chr12:48513600-48516400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:48513600-48526400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:48513600-48527000	Weak transcription	Pancreas	Pancrea
11	chr12:48513800-48516200	Weak transcription	Stomach Mucosa	stomach
12	chr12:48513800-48516600	Weak transcription	Fetal Thymus	thymus
13	chr12:48513800-48519400	Weak transcription	Primary T cells from cord blood	blood
14	chr12:48513800-48524400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr12:48513800-48525000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:48513800-48525000	Weak transcription	Lung	lung
17	chr12:48513800-48525800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:48513800-48526000	Weak transcription	Colonic Mucosa	Colon
19	chr12:48513800-48526400	Weak transcription	Gastric	stomach
20	chr12:48513800-48526600	Weak transcription	Thymus	Thymus
21	chr12:48513800-48526800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:48514000-48515200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:48514000-48515400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr12:48514000-48516000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:48514000-48516200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:48514000-48516200	Weak transcription	Fetal Intestine Large	intestine
27	chr12:48514000-48516400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:48514000-48516400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:48514000-48516400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:48514000-48516400	Weak transcription	Fetal Stomach	stomach
31	chr12:48514000-48516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:48514000-48516800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:48514000-48518600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:48514000-48520200	Weak transcription	Fetal Lung	lung
35	chr12:48514000-48520600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr12:48514000-48521200	Weak transcription	Primary B cells from cord blood	blood
37	chr12:48514000-48522000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:48514000-48522200	Weak transcription	Adipose Nuclei	Adipose
39	chr12:48514000-48523200	Weak transcription	Fetal Kidney	kidney
40	chr12:48514000-48524200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:48514000-48524200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:48514000-48524600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:48514000-48525000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:48514000-48525000	Weak transcription	Brain Substantia Nigra	brain
45	chr12:48514000-48525000	Weak transcription	Esophagus	oesophagus
46	chr12:48514000-48525600	Weak transcription	Placenta	Placenta
47	chr12:48514000-48526400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr12:48514000-48526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:48514000-48526600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:48514000-48536600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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