Variant report

Variant	rs11575253
Chromosome Location	chr12:56734773-56734774
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56732615..56735568-chr12:56748598..56751443,2	K562	blood:
2	chr12:56733018..56735273-chr12:56751858..56755127,3	MCF-7	breast:
3	chr12:56733070..56735275-chr12:56751846..56754299,2	K562	blood:

Variant related genes	Relation type
ENSG00000170581	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs74091895	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56728400-56736400	Weak transcription	Ovary	ovary
2	chr12:56728400-56736400	Weak transcription	Small Intestine	intestine
3	chr12:56728600-56734800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:56728600-56735000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:56728600-56735000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:56728600-56735200	Weak transcription	Fetal Stomach	stomach
7	chr12:56728600-56735200	Weak transcription	Left Ventricle	heart
8	chr12:56728600-56736400	Weak transcription	Fetal Brain Female	brain
9	chr12:56728600-56736400	Weak transcription	Fetal Kidney	kidney
10	chr12:56728600-56736400	Weak transcription	Gastric	stomach
11	chr12:56728600-56736400	Weak transcription	Pancreas	Pancrea
12	chr12:56728600-56736400	Weak transcription	NHLF	lung
13	chr12:56728600-56736600	Weak transcription	Aorta	Aorta
14	chr12:56728600-56736800	Weak transcription	Colonic Mucosa	Colon
15	chr12:56728600-56739600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr12:56728600-56748200	Weak transcription	Fetal Brain Male	brain
17	chr12:56728800-56734800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:56728800-56734800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:56728800-56735000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:56728800-56735000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:56728800-56735000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:56728800-56735000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:56728800-56735000	Weak transcription	Adipose Nuclei	Adipose
24	chr12:56728800-56735000	Weak transcription	Brain Hippocampus Middle	brain
25	chr12:56728800-56735000	Weak transcription	HSMM	muscle
26	chr12:56728800-56735000	Weak transcription	HSMMtube	muscle
27	chr12:56728800-56735200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:56728800-56735200	Weak transcription	Liver	Liver
29	chr12:56728800-56735200	Weak transcription	Brain Anterior Caudate	brain
30	chr12:56728800-56735200	Weak transcription	Placenta	Placenta
31	chr12:56728800-56735400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:56728800-56736200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:56728800-56736200	Weak transcription	Psoas Muscle	Psoas
34	chr12:56728800-56736400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:56728800-56736400	Weak transcription	Brain Angular Gyrus	brain
36	chr12:56728800-56736400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:56728800-56736400	Weak transcription	Brain Substantia Nigra	brain
38	chr12:56728800-56736400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:56728800-56736400	Weak transcription	Fetal Lung	lung
40	chr12:56728800-56736400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr12:56728800-56736400	Weak transcription	Right Ventricle	heart
42	chr12:56728800-56736400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:56728800-56736600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:56728800-56736600	Weak transcription	HUVEC	blood vessel
45	chr12:56728800-56736600	Weak transcription	NHDF-Ad	bronchial
46	chr12:56728800-56736800	Weak transcription	Colon Smooth Muscle	Colon
47	chr12:56728800-56737000	Weak transcription	A549	lung
48	chr12:56728800-56742200	Weak transcription	Stomach Mucosa	stomach
49	chr12:56728800-56752600	Weak transcription	Fetal Heart	heart
50	chr12:56729000-56735000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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