Variant report

Variant	rs11574017
Chromosome Location	chr12:48297295-48297296
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48133250..48135553-chr12:48296742..48299315,2	K562	blood:
2	chr12:48290491..48293041-chr12:48295549..48298546,2	K562	blood:
3	chr12:48141724..48144633-chr12:48296342..48298575,2	K562	blood:
4	chr12:48167510..48169147-chr12:48296564..48298713,2	MCF-7	breast:
5	chr12:48296295..48301288-chr12:48356017..48360451,6	MCF-7	breast:
6	chr12:48290096..48306593-chr12:48332606..48350271,44	MCF-7	breast:
7	chr12:48296929..48299891-chr12:48498540..48500341,2	MCF-7	breast:
8	chr12:48244275..48246412-chr12:48294986..48297524,2	MCF-7	breast:
9	chr12:48245078..48247874-chr12:48296202..48297981,2	K562	blood:
10	chr12:48276120..48279378-chr12:48295337..48299363,4	MCF-7	breast:
11	chr12:48270125..48272257-chr12:48295028..48297755,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000079337	Chromatin interaction
ENSG00000205537	Chromatin interaction
ENSG00000152556	Chromatin interaction
ENSG00000134291	Chromatin interaction
ENSG00000079387	Chromatin interaction
ENSG00000111424	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs74088715	1.00[AMR][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	nsv428589	chr12:48282920-48341192	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48286800-48298000	Weak transcription	Right Atrium	heart
2	chr12:48290800-48297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:48293200-48297400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr12:48293200-48297400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:48293200-48297400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:48293200-48297600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr12:48293400-48297400	Enhancers	Esophagus	oesophagus
8	chr12:48293400-48297600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:48293400-48297600	Enhancers	Lung	lung
10	chr12:48293400-48297800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr12:48293400-48297800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:48293400-48298200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
13	chr12:48293400-48298400	Enhancers	Gastric	stomach
14	chr12:48293400-48298400	Enhancers	Stomach Mucosa	stomach
15	chr12:48293600-48297400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:48293600-48297800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:48293600-48297800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:48294200-48298800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr12:48294400-48298200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr12:48294400-48299000	Enhancers	Spleen	Spleen
21	chr12:48294600-48297800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:48295000-48297600	Active TSS	Rectal Smooth Muscle	rectum
23	chr12:48295600-48297800	Flanking Active TSS	HMEC	breast
24	chr12:48296000-48297600	Active TSS	Colonic Mucosa	Colon
25	chr12:48296000-48297800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:48296200-48297800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:48296400-48297600	Bivalent Enhancer	Primary T cells from cord blood	blood
28	chr12:48296400-48297800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:48296400-48297800	Flanking Active TSS	NHDF-Ad	bronchial
30	chr12:48296400-48298400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:48296600-48297600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:48296600-48297800	Flanking Active TSS	NHLF	lung
33	chr12:48296600-48298200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:48296600-48298200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:48296600-48298200	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr12:48296600-48298200	Flanking Active TSS	HSMM	muscle
37	chr12:48296600-48298400	Flanking Active TSS	Osteobl	bone
38	chr12:48296800-48297400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:48296800-48297600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:48296800-48297600	Enhancers	Aorta	Aorta
41	chr12:48296800-48297800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:48296800-48297800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:48296800-48297800	Flanking Active TSS	NHEK	skin
44	chr12:48296800-48298000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr12:48296800-48298400	Enhancers	Placenta Amnion	Placenta Amnion
46	chr12:48296800-48298400	Flanking Active TSS	Hela-S3	cervix
47	chr12:48296800-48298600	Flanking Active TSS	NH-A	brain
48	chr12:48296800-48298800	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr12:48296800-48298800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:48297000-48297400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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