Variant report

Variant	rs73363592
Chromosome Location	chr12:76029166-76029167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76001058..76002737-chr12:76026565..76029545,2	K562	blood:
2	chr12:76028709..76030372-chr12:76096874..76098526,2	MCF-7	breast:
3	chr12:76028267..76031112-chr12:76369417..76371857,2	MCF-7	breast:
4	chr12:76028950..76031256-chr12:76042854..76044405,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs73363599	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73378377	0.94[AFR][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	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76018200-76029600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:76018400-76029400	Weak transcription	NHEK	skin
3	chr12:76025400-76030800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:76025600-76032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:76025800-76030200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:76026200-76030200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr12:76026600-76035000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:76027000-76029600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:76027000-76029600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:76027400-76029800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr12:76027400-76030000	Enhancers	Fetal Lung	lung
12	chr12:76027600-76030200	Enhancers	HUVEC	blood vessel
13	chr12:76027600-76031000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:76027800-76031000	Enhancers	HepG2	liver
15	chr12:76028000-76030600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr12:76028200-76029600	Enhancers	Dnd41	blood
17	chr12:76028200-76030000	Enhancers	K562	blood
18	chr12:76028200-76030200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:76028200-76030800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr12:76028200-76031000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr12:76028400-76030200	Enhancers	HSMM	muscle
22	chr12:76028400-76030400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:76028400-76030600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr12:76028600-76030400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr12:76028600-76030400	Enhancers	NHDF-Ad	bronchial
26	chr12:76028600-76030400	Enhancers	NHLF	lung
27	chr12:76028600-76030400	Enhancers	Osteobl	bone
28	chr12:76028600-76031000	Enhancers	NH-A	brain
29	chr12:76028800-76029200	Enhancers	A549	lung
30	chr12:76028800-76030400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr12:76028800-76030400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:76028800-76030600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:76028800-76030800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:76028800-76031000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:76028800-76031000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:76029000-76029400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:76029000-76030000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:76029000-76030200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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