Variant report

Variant	rs375194188
Chromosome Location	chr12:118689333-118689334
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118673643..118676401-chr12:118686637..118689650,3	K562	blood:
2	chr12:118688074..118690965-chr12:118809730..118812650,2	MCF-7	breast:
3	chr12:118687145..118690867-chr12:118809484..118812867,4	K562	blood:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
2	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
6	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
7	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
8	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
9	chr12:118650400-118690400	Weak transcription	Stomach Mucosa	stomach
10	chr12:118652200-118727800	Weak transcription	NHLF	lung
11	chr12:118659000-118693800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:118666800-118701000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:118667200-118704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:118669000-118709000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:118669000-118725200	Weak transcription	K562	blood
16	chr12:118671200-118701800	Weak transcription	Right Ventricle	heart
17	chr12:118673200-118698800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:118673200-118701600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:118673400-118692000	Weak transcription	Brain Anterior Caudate	brain
20	chr12:118673400-118705400	Weak transcription	Colonic Mucosa	Colon
21	chr12:118673400-118710400	Weak transcription	Placenta	Placenta
22	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
23	chr12:118673600-118712000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:118673800-118691400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:118673800-118694200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:118673800-118703000	Weak transcription	Thymus	Thymus
27	chr12:118673800-118709200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:118674000-118692000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr12:118674000-118700800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr12:118674000-118706200	Weak transcription	Left Ventricle	heart
32	chr12:118674000-118726200	Weak transcription	Lung	lung
33	chr12:118675200-118692200	Weak transcription	Osteobl	bone
34	chr12:118675400-118691600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:118676000-118692000	Weak transcription	Adipose Nuclei	Adipose
36	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr12:118676200-118692000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr12:118676200-118694000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:118676200-118707400	Weak transcription	HSMM	muscle
40	chr12:118676400-118705000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:118676400-118718400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:118676800-118720400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:118677000-118690800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:118677000-118691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:118677000-118695400	Weak transcription	HMEC	breast
46	chr12:118677000-118708000	Weak transcription	NHEK	skin
47	chr12:118677000-118708800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:118678000-118692000	Weak transcription	Primary B cells from peripheral blood	blood
50	chr12:118679000-118694200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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