Variant report

Variant	rs60001451
Chromosome Location	chr12:48514865-48514866
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48511519..48514886-chr12:48548320..48552889,5	K562	blood:
2	chr12:48496389..48500489-chr12:48511491..48515053,4	K562	blood:
3	chr12:48498567..48501846-chr12:48512929..48518601,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079387	Chromatin interaction
ENSG00000177981	Chromatin interaction
ENSG00000152556	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs55759881	0.83[AMR][1000 genomes]
rs55789595	0.83[AMR][1000 genomes]
rs55991805	1.00[AMR][1000 genomes]
rs57539024	1.00[AMR][1000 genomes]
rs58148022	0.83[AMR][1000 genomes]
rs58373242	0.83[AMR][1000 genomes]
rs59051221	1.00[AMR][1000 genomes]
rs59643562	1.00[AMR][1000 genomes]
rs59787033	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59896935	1.00[AMR][1000 genomes]
rs60316794	1.00[AMR][1000 genomes]
rs61558457	1.00[AMR][1000 genomes]
rs61750873	0.83[AMR][1000 genomes]
rs7316275	1.00[AMR][1000 genomes]
rs74086781	0.83[AMR][1000 genomes]
rs74086968	0.83[AMR][1000 genomes]
rs74086984	1.00[AMR][1000 genomes]
rs74089112	1.00[AMR][1000 genomes]
rs74089120	1.00[AMR][1000 genomes]
rs74089127	1.00[AMR][1000 genomes]
rs74089135	1.00[AMR][1000 genomes]
rs74089149	1.00[AMR][1000 genomes]
rs74089151	1.00[AMR][1000 genomes]
rs74089154	1.00[AMR][1000 genomes]
rs74089161	1.00[AMR][1000 genomes]
rs74089171	1.00[AMR][1000 genomes]
rs74089540	0.83[AMR][1000 genomes]
rs74089548	0.83[AMR][1000 genomes]
rs74089549	0.83[AMR][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	chr12:48512800-48515000	Active TSS	Right Ventricle	heart
4	chr12:48512800-48515200	Active TSS	Left Ventricle	heart
5	chr12:48512800-48515800	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr12:48513400-48524800	Weak transcription	Liver	Liver
7	chr12:48513400-48526600	Weak transcription	Spleen	Spleen
8	chr12:48513600-48516000	Weak transcription	Small Intestine	intestine
9	chr12:48513600-48516400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:48513600-48526400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:48513600-48527000	Weak transcription	Pancreas	Pancrea
12	chr12:48513800-48516200	Weak transcription	Stomach Mucosa	stomach
13	chr12:48513800-48516600	Weak transcription	Fetal Thymus	thymus
14	chr12:48513800-48519400	Weak transcription	Primary T cells from cord blood	blood
15	chr12:48513800-48524400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:48513800-48525000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:48513800-48525000	Weak transcription	Lung	lung
18	chr12:48513800-48525800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:48513800-48526000	Weak transcription	Colonic Mucosa	Colon
20	chr12:48513800-48526400	Weak transcription	Gastric	stomach
21	chr12:48513800-48526600	Weak transcription	Thymus	Thymus
22	chr12:48513800-48526800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:48514000-48515000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:48514000-48515200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr12:48514000-48515400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:48514000-48516000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:48514000-48516200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:48514000-48516200	Weak transcription	Fetal Intestine Large	intestine
29	chr12:48514000-48516400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:48514000-48516400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:48514000-48516400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:48514000-48516400	Weak transcription	Fetal Stomach	stomach
33	chr12:48514000-48516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr12:48514000-48516800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:48514000-48518600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:48514000-48520200	Weak transcription	Fetal Lung	lung
37	chr12:48514000-48520600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:48514000-48521200	Weak transcription	Primary B cells from cord blood	blood
39	chr12:48514000-48522000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:48514000-48522200	Weak transcription	Adipose Nuclei	Adipose
41	chr12:48514000-48523200	Weak transcription	Fetal Kidney	kidney
42	chr12:48514000-48524200	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:48514000-48524200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:48514000-48524600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:48514000-48525000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:48514000-48525000	Weak transcription	Brain Substantia Nigra	brain
47	chr12:48514000-48525000	Weak transcription	Esophagus	oesophagus
48	chr12:48514000-48525600	Weak transcription	Placenta	Placenta
49	chr12:48514000-48526400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:48514000-48526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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