Variant report

Variant	rs74078017
Chromosome Location	chr12:42707836-42707837
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42706940..42709502-chr12:42710723..42713507,2	K562	blood:
2	chr12:42706940..42708558-chr12:42710678..42712223,2	K562	blood:
3	chr12:42694959..42697178-chr12:42707287..42709535,2	MCF-7	breast:
4	chr12:42707619..42711063-chr12:42718047..42720920,3	K562	blood:
5	chr12:42706074..42709119-chr12:42717381..42720082,3	K562	blood:
6	chr12:42562862..42565624-chr12:42706310..42708751,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134283	Chromatin interaction
ENSG00000139168	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11181419	0.80[AFR][1000 genomes]
rs56655832	0.86[AFR][1000 genomes]
rs74078005	1.00[AMR][1000 genomes]
rs74078043	0.98[AFR][1000 genomes]
rs74078977	0.86[AFR][1000 genomes]
rs74081707	0.86[AFR][1000 genomes]
rs7960851	0.83[AMR][1000 genomes]
rs7970109	0.86[AFR][1000 genomes]
rs7977710	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
2	nsv1048971	chr12:42651976-42801204	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42693600-42719000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:42693800-42708400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:42695200-42710600	Weak transcription	GM12878-XiMat	blood
4	chr12:42695600-42714800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:42696200-42709000	Weak transcription	K562	blood
6	chr12:42696200-42718800	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:42697000-42718800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:42697200-42710600	Weak transcription	Ovary	ovary
9	chr12:42697400-42718000	Weak transcription	HepG2	liver
10	chr12:42699600-42718800	Weak transcription	HUVEC	blood vessel
11	chr12:42699800-42718200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:42700800-42716400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:42701200-42718600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:42701400-42717400	Weak transcription	Pancreas	Pancrea
15	chr12:42701800-42712200	Weak transcription	Thymus	Thymus
16	chr12:42701800-42718600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:42701800-42718800	Weak transcription	Brain Angular Gyrus	brain
18	chr12:42701800-42719400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:42702200-42718600	Weak transcription	Brain Substantia Nigra	brain
20	chr12:42702400-42714600	Weak transcription	Brain Germinal Matrix	brain
21	chr12:42702600-42718800	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:42702800-42712200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:42703000-42717400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:42703400-42708000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:42703600-42710200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr12:42703800-42715000	Weak transcription	Hela-S3	cervix
27	chr12:42703800-42718800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:42704200-42709000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:42704200-42710400	Weak transcription	Fetal Brain Male	brain
30	chr12:42704200-42718400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:42704800-42712400	Weak transcription	Lung	lung
32	chr12:42705000-42711600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr12:42705000-42712000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:42705000-42718000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:42705200-42711600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:42705200-42714800	Weak transcription	Fetal Lung	lung
37	chr12:42705200-42718600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:42705200-42718600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:42705200-42719000	Weak transcription	HSMMtube	muscle
40	chr12:42705400-42718400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr12:42705400-42719200	Weak transcription	Fetal Intestine Small	intestine
42	chr12:42705600-42708800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:42705600-42708800	Weak transcription	Fetal Kidney	kidney
44	chr12:42705600-42710000	Weak transcription	Brain Anterior Caudate	brain
45	chr12:42705600-42711800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:42705600-42713000	Strong transcription	Liver	Liver
47	chr12:42705600-42714600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:42705600-42719200	Weak transcription	Psoas Muscle	Psoas
49	chr12:42705600-42719400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr12:42705600-42719400	Weak transcription	Small Intestine	intestine

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