Variant report

Variant	rs71453336
Chromosome Location	chr12:42569620-42569621
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:42537838..42540429-chr12:42567645..42569646,2	K562	blood:

Variant related genes	Relation type
ENSG00000151233	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17666080	1.00[AFR][1000 genomes]
rs35012772	1.00[AFR][1000 genomes]
rs35806565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42539400-42577000	Weak transcription	Aorta	Aorta
2	chr12:42539400-42583200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:42539600-42574000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr12:42539600-42578400	Weak transcription	Left Ventricle	heart
5	chr12:42539600-42586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:42539800-42582800	Weak transcription	Spleen	Spleen
7	chr12:42539800-42607800	Weak transcription	Pancreas	Pancrea
8	chr12:42540000-42574800	Weak transcription	Brain Anterior Caudate	brain
9	chr12:42547800-42610400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:42549400-42575000	Weak transcription	Brain Angular Gyrus	brain
11	chr12:42550600-42615800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:42552000-42604000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:42552200-42574800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:42552200-42591200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:42552200-42613000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:42552400-42620000	Weak transcription	Fetal Brain Female	brain
17	chr12:42552600-42578800	Weak transcription	Lung	lung
18	chr12:42553400-42571200	Weak transcription	Esophagus	oesophagus
19	chr12:42553600-42590000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:42554000-42607600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:42554400-42578600	Weak transcription	Thymus	Thymus
22	chr12:42554600-42570800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:42554600-42592200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:42554800-42571000	Weak transcription	HepG2	liver
25	chr12:42555000-42628600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:42555200-42570200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:42555200-42572600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:42555200-42574800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:42555200-42575400	Weak transcription	NH-A	brain
30	chr12:42555200-42576400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:42555200-42586000	Weak transcription	Fetal Lung	lung
32	chr12:42555200-42590000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:42555400-42569800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:42555400-42598000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:42555600-42569800	Weak transcription	Dnd41	blood
36	chr12:42555600-42586400	Weak transcription	Hela-S3	cervix
37	chr12:42556200-42578400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:42556600-42575000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr12:42556600-42578600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr12:42556800-42613200	Weak transcription	HMEC	breast
41	chr12:42557000-42570400	Weak transcription	HSMMtube	muscle
42	chr12:42557000-42581800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:42557000-42604000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:42557200-42580400	Weak transcription	GM12878-XiMat	blood
45	chr12:42557200-42606800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:42557800-42569800	Weak transcription	Fetal Intestine Large	intestine
47	chr12:42558000-42602400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:42561000-42580400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:42561200-42570000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:42561400-42575000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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