Variant report

Variant	rs2062525
Chromosome Location	chr12:118823234-118823235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118822778..118824294-chr12:118826163..118828667,2	MCF-7	breast:
2	chr12:118822689..118824597-chr12:118829112..118830788,2	MCF-7	breast:
3	chr12:118821775..118824267-chr12:118842458..118843990,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1045542	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17441179	1.00[ASN][1000 genomes]
rs34789655	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35506792	1.00[ASN][1000 genomes]
rs73412971	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][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	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	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2062525	SUDS3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118815800-118824400	Weak transcription	Stomach Mucosa	stomach
2	chr12:118815800-118827400	Weak transcription	Psoas Muscle	Psoas
3	chr12:118815800-118839600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:118815800-118855200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:118816000-118862000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:118816200-118824000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:118816200-118824000	Weak transcription	Small Intestine	intestine
8	chr12:118816200-118863400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:118816400-118835600	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:118816400-118838600	Strong transcription	Fetal Stomach	stomach
11	chr12:118816400-118855000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:118816400-118855400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr12:118816800-118828800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:118816800-118831800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:118816800-118839400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:118816800-118841600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr12:118816800-118844400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:118816800-118855000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:118816800-118855200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:118816800-118855400	Strong transcription	Primary T cells from cord blood	blood
21	chr12:118816800-118856600	Strong transcription	Placenta	Placenta
22	chr12:118817000-118845600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr12:118817000-118846000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:118817000-118855600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:118817000-118856000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr12:118817200-118826600	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr12:118817200-118829200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:118817200-118832600	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:118817200-118833000	Strong transcription	Fetal Lung	lung
30	chr12:118817200-118834200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:118817200-118837400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:118817200-118839400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:118817200-118839600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:118817200-118841800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:118817200-118841800	Strong transcription	Fetal Brain Female	brain
36	chr12:118817200-118841800	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:118817200-118842600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:118817200-118845600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:118817200-118845800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:118817200-118848800	Strong transcription	Dnd41	blood
41	chr12:118817200-118850400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:118817200-118854400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:118817200-118854800	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:118817200-118855400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:118817200-118856600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr12:118817200-118856600	Strong transcription	Fetal Intestine Large	intestine
47	chr12:118817400-118826400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:118817400-118829000	Strong transcription	Adipose Nuclei	Adipose
49	chr12:118817400-118829200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:118817400-118833000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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