Variant report

Variant	rs73380992
Chromosome Location	chr12:76243764-76243765
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76242079..76243789-chr12:76420036..76421626,2	MCF-7	breast:
2	chr12:76242367..76248604-chr12:76422405..76426784,7	MCF-7	breast:
3	chr12:76243477..76245855-chr12:76249457..76251726,2	K562	blood:

Variant related genes	Relation type
ENSG00000139289	Chromatin interaction
ENSG00000257453	Chromatin interaction
ENSG00000257839	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73376409	0.86[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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr12:76228600-76250000	Weak transcription	Pancreas	Pancrea
2	chr12:76239600-76244600	Weak transcription	HepG2	liver
3	chr12:76240400-76247400	Weak transcription	Aorta	Aorta
4	chr12:76240800-76244600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:76241200-76243800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:76241200-76244000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:76241400-76243800	Enhancers	Fetal Stomach	stomach
8	chr12:76241400-76244000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:76241600-76243800	Enhancers	Fetal Muscle Leg	muscle
10	chr12:76241600-76246000	Enhancers	Brain Germinal Matrix	brain
11	chr12:76241600-76248800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:76241600-76251000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:76241800-76243800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:76242000-76244000	Enhancers	Colon Smooth Muscle	Colon
15	chr12:76242000-76245400	Enhancers	NHLF	lung
16	chr12:76242000-76246600	Enhancers	Osteobl	bone
17	chr12:76242000-76247600	Enhancers	NHDF-Ad	bronchial
18	chr12:76242000-76249000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:76242200-76245200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:76242200-76245800	Enhancers	NHEK	skin
21	chr12:76242200-76247800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:76242400-76243800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:76242400-76243800	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:76242600-76244200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:76242600-76244400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:76242800-76243800	Enhancers	Stomach Mucosa	stomach
27	chr12:76242800-76244000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:76242800-76244200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:76242800-76244200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:76242800-76244200	Weak transcription	A549	lung
31	chr12:76242800-76244600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:76243200-76244200	Weak transcription	Adipose Nuclei	Adipose
33	chr12:76243200-76244200	Weak transcription	Right Ventricle	heart
34	chr12:76243200-76244200	Weak transcription	NH-A	brain
35	chr12:76243200-76244400	Weak transcription	HSMMtube	muscle
36	chr12:76243200-76244400	Weak transcription	HUVEC	blood vessel
37	chr12:76243200-76244800	Weak transcription	Left Ventricle	heart
38	chr12:76243200-76245800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:76243400-76243800	Active TSS	Fetal Brain Male	brain
40	chr12:76243400-76244600	Weak transcription	Fetal Kidney	kidney
41	chr12:76243400-76244600	Weak transcription	Psoas Muscle	Psoas
42	chr12:76243400-76244800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:76243400-76245200	Enhancers	Fetal Lung	lung
44	chr12:76243400-76253800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr12:76243600-76244000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:76243600-76244000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:76243600-76244000	Weak transcription	Hela-S3	cervix
48	chr12:76243600-76244000	Weak transcription	HMEC	breast
49	chr12:76243600-76244600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr12:76243600-76244600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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