Variant report

Variant	rs58039341
Chromosome Location	chr12:50137853-50137854
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50134227..50139526-chr12:50218668..50224471,9	K562	blood:
2	chr12:50137650..50140394-chr12:50217891..50219857,2	MCF-7	breast:
3	chr12:50126958..50129574-chr12:50137567..50139944,2	K562	blood:
4	chr12:50137626..50141652-chr12:50149897..50153012,3	K562	blood:
5	chr12:50134112..50135645-chr12:50137455..50138993,2	MCF-7	breast:
6	chr12:50133925..50140140-chr12:50217980..50223924,8	K562	blood:
7	chr12:50023902..50034192-chr12:50133489..50138270,11	K562	blood:
8	chr12:50135738..50138027-chr12:50197622..50200585,2	K562	blood:
9	chr12:50134026..50138215-chr12:50236682..50241219,8	K562	blood:
10	chr12:50096479..50103459-chr12:50133671..50138995,13	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110844	Chromatin interaction
ENSG00000161791	Chromatin interaction
ENSG00000167566	Chromatin interaction
ENSG00000257570	Chromatin interaction
ENSG00000186666	Chromatin interaction
ENSG00000139644	Chromatin interaction
ENSG00000258057	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12300376	1.00[EUR][1000 genomes]
rs12300919	1.00[EUR][1000 genomes]
rs12300962	1.00[EUR][1000 genomes]
rs12306951	1.00[EUR][1000 genomes]
rs12316175	1.00[EUR][1000 genomes]
rs1317263	1.00[EUR][1000 genomes]
rs17119738	1.00[EUR][1000 genomes]
rs17123724	1.00[EUR][1000 genomes]
rs17123729	1.00[EUR][1000 genomes]
rs17123778	1.00[EUR][1000 genomes]
rs17123787	1.00[EUR][1000 genomes]
rs57046047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57124034	1.00[AMR][1000 genomes]
rs57625108	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61438877	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73305065	1.00[AMR][1000 genomes]
rs73305068	1.00[AMR][1000 genomes]
rs73305070	1.00[AMR][1000 genomes]
rs73305081	1.00[AMR][1000 genomes]
rs73305100	1.00[AMR][1000 genomes]
rs73305101	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306844	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306846	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306864	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73306865	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306875	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73306891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309004	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309010	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309017	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73309026	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 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	chr12:50135000-50138200	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr12:50135000-50138200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:50136200-50138000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:50136400-50138000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:50136400-50138800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:50136400-50140800	Weak transcription	Gastric	stomach
7	chr12:50136600-50138000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:50136600-50138000	Flanking Active TSS	Hela-S3	cervix
9	chr12:50136600-50138200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:50136600-50138600	Enhancers	Small Intestine	intestine
11	chr12:50136600-50139000	Flanking Active TSS	Liver	Liver
12	chr12:50136600-50146400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:50136800-50138000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr12:50136800-50138200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:50136800-50138200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:50136800-50138200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr12:50136800-50138400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:50136800-50138400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:50136800-50138600	Enhancers	Brain Angular Gyrus	brain
20	chr12:50136800-50138600	Transcr. at gene 5' and 3'	NHEK	skin
21	chr12:50136800-50139000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:50136800-50139000	Genic enhancers	Primary B cells from cord blood	blood
23	chr12:50136800-50144200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr12:50136800-50146600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:50137000-50138000	Enhancers	Primary B cells from peripheral blood	blood
26	chr12:50137000-50138200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:50137000-50138200	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:50137000-50138200	Enhancers	Fetal Brain Female	brain
29	chr12:50137000-50138200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr12:50137000-50138200	Weak transcription	Thymus	Thymus
31	chr12:50137000-50138200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr12:50137000-50138400	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr12:50137000-50138400	Enhancers	Fetal Lung	lung
34	chr12:50137000-50138400	Enhancers	Stomach Mucosa	stomach
35	chr12:50137000-50138600	Enhancers	Brain Anterior Caudate	brain
36	chr12:50137000-50138600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:50137000-50138800	Enhancers	Rectal Smooth Muscle	rectum
38	chr12:50137000-50139200	Enhancers	Brain Cingulate Gyrus	brain
39	chr12:50137000-50139200	Enhancers	Colon Smooth Muscle	Colon
40	chr12:50137000-50142000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr12:50137000-50142200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr12:50137000-50143800	Weak transcription	Colonic Mucosa	Colon
43	chr12:50137000-50146200	Weak transcription	HSMMtube	muscle
44	chr12:50137000-50147000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:50137200-50138000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:50137200-50138000	Weak transcription	Brain Substantia Nigra	brain
47	chr12:50137200-50138200	Weak transcription	Esophagus	oesophagus
48	chr12:50137200-50138200	Weak transcription	Ovary	ovary
49	chr12:50137200-50138400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:50137200-50138600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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