Variant report

Variant	rs73378903
Chromosome Location	chr12:76213498-76213499
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76207915..76215391-chr12:76415099..76426528,21	MCF-7	breast:

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

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs59309254	1.00[AMR][1000 genomes]
rs73371358	1.00[AMR][1000 genomes]
rs73371360	1.00[AMR][1000 genomes]
rs73371365	1.00[AMR][1000 genomes]
rs73374996	1.00[AMR][1000 genomes]
rs73375002	1.00[AMR][1000 genomes]
rs73376967	1.00[AMR][1000 genomes]
rs73376969	1.00[AMR][1000 genomes]
rs73376976	1.00[AMR][1000 genomes]
rs73376991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73378910	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv521900	chr12:76212383-76215754	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76206600-76214400	Enhancers	NHDF-Ad	bronchial
2	chr12:76206600-76214600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:76206800-76213600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:76206800-76214400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:76207200-76214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:76208800-76221200	Enhancers	NHLF	lung
7	chr12:76209000-76214000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:76209200-76213600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:76209400-76214000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:76209400-76214400	Weak transcription	Fetal Lung	lung
11	chr12:76209600-76214000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr12:76209800-76214200	Weak transcription	Adipose Nuclei	Adipose
13	chr12:76209800-76214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:76209800-76214400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:76209800-76214400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:76209800-76214600	Weak transcription	Ovary	ovary
17	chr12:76209800-76216400	Weak transcription	Fetal Heart	heart
18	chr12:76210000-76214200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:76210000-76214200	Weak transcription	HSMM	muscle
20	chr12:76210000-76214800	Weak transcription	Colon Smooth Muscle	Colon
21	chr12:76210000-76215200	Weak transcription	Fetal Stomach	stomach
22	chr12:76211200-76214200	Weak transcription	NH-A	brain
23	chr12:76211800-76217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:76212200-76213600	Genic enhancers	NHEK	skin
25	chr12:76212400-76214400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:76212400-76214400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:76212400-76214400	Enhancers	Osteobl	bone
28	chr12:76212400-76216000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:76212400-76216400	Enhancers	HMEC	breast
30	chr12:76212600-76213600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:76212600-76213800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:76212600-76215200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:76212800-76213600	Enhancers	K562	blood
34	chr12:76212800-76216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:76213000-76213600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr12:76213000-76214200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:76213000-76214200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:76213000-76214200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:76213200-76213600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr12:76213200-76213600	Enhancers	Fetal Kidney	kidney
41	chr12:76213400-76214200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:76213400-76214200	Weak transcription	HSMMtube	muscle
43	chr12:76213400-76215200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr12:76213400-76215200	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:76213400-76218200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:76213400-76218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:76213400-76218600	Weak transcription	Esophagus	oesophagus

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