Variant report

Variant	rs7133915
Chromosome Location	chr12:57641340-57641341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57640540..57643172-chr12:57644604..57647826,3	K562	blood:

Variant related genes	Relation type
ENSG00000185482	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11172139	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11172145	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11172152	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7139302	0.86[EUR][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57635800-57642600	Weak transcription	HSMM	muscle
2	chr12:57637200-57642600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:57637200-57647400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:57637200-57648400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:57637400-57647200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:57637600-57644800	Weak transcription	NHLF	lung
7	chr12:57637600-57648400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr12:57637600-57648400	Weak transcription	Lung	lung
9	chr12:57637600-57649000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:57637600-57649600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:57637600-57651200	Weak transcription	NHDF-Ad	bronchial
12	chr12:57637600-57654200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:57637800-57645800	Weak transcription	Osteobl	bone
14	chr12:57637800-57648400	Weak transcription	Spleen	Spleen
15	chr12:57637800-57649800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:57638000-57642400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:57638000-57642400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:57638000-57647000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:57638000-57647200	Weak transcription	Fetal Brain Female	brain
20	chr12:57638000-57648200	Weak transcription	Primary T cells from cord blood	blood
21	chr12:57638000-57648400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:57638000-57648400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr12:57638000-57648400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:57638000-57648400	Weak transcription	Brain Anterior Caudate	brain
25	chr12:57638000-57648400	Weak transcription	Pancreas	Pancrea
26	chr12:57638000-57649000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:57638000-57649000	Weak transcription	Dnd41	blood
28	chr12:57638000-57649400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:57638000-57649400	Weak transcription	Fetal Heart	heart
30	chr12:57638000-57649600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:57638000-57649600	Weak transcription	Right Ventricle	heart
32	chr12:57638000-57651200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:57638000-57651200	Weak transcription	Fetal Brain Male	brain
34	chr12:57638200-57642600	Weak transcription	Thymus	Thymus
35	chr12:57638200-57648000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:57638200-57648400	Weak transcription	Colonic Mucosa	Colon
37	chr12:57638400-57648400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:57638600-57643000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:57638600-57649600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:57638800-57673600	Weak transcription	Stomach Mucosa	stomach
41	chr12:57639000-57641800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr12:57639000-57643000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:57639000-57644200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:57639000-57647000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:57639000-57647000	Weak transcription	Fetal Intestine Small	intestine
46	chr12:57639000-57648000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:57639000-57648000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:57639200-57641600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:57639200-57647200	Weak transcription	Fetal Stomach	stomach
50	chr12:57639200-57648200	Weak transcription	Brain Germinal Matrix	brain

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