Variant report

Variant	rs73342531
Chromosome Location	chr12:57542155-57542156
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr12:57541953-57542194	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57520592..57523929-chr12:57539571..57544778,8	MCF-7	breast:
2	chr12:57541941..57544078-chr12:57545120..57547698,2	K562	blood:
3	chr12:57537415..57539058-chr12:57542149..57544581,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259125	TF binding region
ENSG00000166888	Chromatin interaction
ENSG00000123384	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs34574998	0.83[AFR][1000 genomes]
rs35161844	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv899112	chr12:57535266-57601388	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57523400-57557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:57524000-57542200	Weak transcription	HMEC	breast
3	chr12:57524000-57543000	Weak transcription	NHEK	skin
4	chr12:57531200-57542800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:57531600-57544000	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr12:57531800-57542800	Weak transcription	Psoas Muscle	Psoas
7	chr12:57531800-57544200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:57531800-57545000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:57531800-57545200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:57531800-57576000	Strong transcription	Fetal Brain Female	brain
11	chr12:57532200-57544000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:57532400-57542600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:57533000-57542400	Genic enhancers	Adipose Nuclei	Adipose
14	chr12:57534800-57542600	Genic enhancers	Brain Hippocampus Middle	brain
15	chr12:57535200-57543800	Genic enhancers	Brain Cingulate Gyrus	brain
16	chr12:57535400-57544800	Genic enhancers	Brain Anterior Caudate	brain
17	chr12:57537000-57544000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:57537400-57544400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:57538400-57544800	Genic enhancers	NHDF-Ad	bronchial
20	chr12:57538600-57542400	Genic enhancers	Fetal Lung	lung
21	chr12:57538600-57543800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:57538600-57544000	Genic enhancers	Brain Inferior Temporal Lobe	brain
23	chr12:57538600-57545400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:57538600-57545600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:57538600-57545600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:57538600-57547600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:57538600-57547600	Genic enhancers	HSMM	muscle
28	chr12:57538800-57542200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:57538800-57542400	Genic enhancers	Muscle Satellite Cultured Cells	--
30	chr12:57538800-57542400	Genic enhancers	Gastric	stomach
31	chr12:57538800-57542600	Genic enhancers	Sigmoid Colon	Sigmoid Colon
32	chr12:57538800-57547000	Genic enhancers	Fetal Intestine Small	intestine
33	chr12:57538800-57547400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:57538800-57547400	Genic enhancers	Fetal Muscle Leg	muscle
35	chr12:57538800-57547400	Genic enhancers	NHLF	lung
36	chr12:57538800-57549000	Genic enhancers	Placenta	Placenta
37	chr12:57539000-57542400	Genic enhancers	Brain Angular Gyrus	brain
38	chr12:57539000-57543200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr12:57539000-57543200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:57539000-57545200	Genic enhancers	Osteobl	bone
41	chr12:57539000-57547200	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr12:57539200-57545600	Genic enhancers	HSMMtube	muscle
43	chr12:57539200-57546400	Genic enhancers	Fetal Intestine Large	intestine
44	chr12:57539400-57543000	Weak transcription	Fetal Heart	heart
45	chr12:57539400-57556600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr12:57539600-57542200	Genic enhancers	Rectal Mucosa Donor 29	rectum
47	chr12:57539600-57543800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr12:57539600-57543800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
49	chr12:57539600-57547200	Genic enhancers	Fetal Stomach	stomach
50	chr12:57539600-57547600	Enhancers	Skeletal Muscle Female	skeletal muscle

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