Variant report

Variant	rs61940147
Chromosome Location	chr12:106328889-106328890
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:106315778..106318266-chr12:106327212..106330143,3	MCF-7	breast:
2	chr12:106327212..106329801-chr12:106406845..106409273,2	MCF-7	breast:
3	chr12:106327102..106328934-chr12:106453566..106455222,2	MCF-7	breast:
4	chr12:106327450..106330150-chr12:106332970..106335467,4	MCF-7	breast:
5	chr12:106326499..106332666-chr12:106530301..106534417,9	MCF-7	breast:
6	chr12:106320573..106324506-chr12:106327076..106328938,3	MCF-7	breast:
7	chr12:106252576..106257330-chr12:106324880..106330173,10	MCF-7	breast:
8	chr12:106322923..106333063-chr12:106528610..106534226,20	MCF-7	breast:
9	chr12:106254601..106257221-chr12:106327502..106331363,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000074590	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11112803	0.92[ASN][1000 genomes]
rs55985768	0.94[ASN][1000 genomes]
rs56200349	0.94[ASN][1000 genomes]
rs61940148	0.94[ASN][1000 genomes]
rs61942471	0.94[ASN][1000 genomes]
rs7309202	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7967359	0.94[ASN][1000 genomes]
rs7971363	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7971470	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832508	chr12:106198797-106409112	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106324600-106332000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:106324800-106332200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:106324800-106332400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:106325000-106329000	Weak transcription	Left Ventricle	heart
5	chr12:106325000-106329800	Weak transcription	Right Atrium	heart
6	chr12:106325200-106332400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:106325400-106336600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:106325600-106335200	Enhancers	HMEC	breast
9	chr12:106326400-106329800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:106326400-106330400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:106326600-106330600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:106327000-106330600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:106327200-106330200	Enhancers	HUVEC	blood vessel
14	chr12:106327200-106331000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr12:106327200-106335000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:106327400-106329400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:106327400-106330600	Enhancers	NH-A	brain
18	chr12:106327600-106329200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:106327600-106329200	Enhancers	Fetal Muscle Leg	muscle
20	chr12:106327600-106329200	Enhancers	Placenta	Placenta
21	chr12:106327600-106329400	Enhancers	Psoas Muscle	Psoas
22	chr12:106327600-106329600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:106327600-106330000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:106327600-106330000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:106327600-106330000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr12:106327600-106330400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:106327600-106331000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:106327600-106331000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:106327600-106331000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:106327800-106329800	Enhancers	Fetal Lung	lung
31	chr12:106327800-106330600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:106327800-106330800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr12:106328000-106329000	Weak transcription	Lung	lung
34	chr12:106328000-106329600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:106328000-106329800	Weak transcription	Aorta	Aorta
36	chr12:106328200-106330000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:106328200-106339200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:106328400-106329000	Flanking Active TSS	HSMMtube	muscle
39	chr12:106328400-106329800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:106328400-106331000	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr12:106328600-106329200	Enhancers	Hela-S3	cervix
42	chr12:106328600-106329600	Weak transcription	Adipose Nuclei	Adipose
43	chr12:106328600-106329600	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:106328600-106329600	Weak transcription	Right Ventricle	heart
45	chr12:106328600-106330000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:106328600-106330000	Enhancers	A549	lung
47	chr12:106328600-106330600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:106328600-106335000	Enhancers	NHEK	skin
49	chr12:106328800-106329800	Weak transcription	NHLF	lung
50	chr12:106328800-106330400	Enhancers	Osteobl	bone

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