Variant report

Variant	rs12306799
Chromosome Location	chr12:76045156-76045157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76044909..76047585-chr12:76424628..76427350,2	MCF-7	breast:
2	chr12:76043318..76046032-chr12:76430144..76431878,2	K562	blood:
3	chr12:76042658..76045412-chr12:76047234..76049811,2	K562	blood:
4	chr12:76032505..76035383-chr12:76043295..76046760,3	K562	blood:
5	chr12:76043053..76046379-chr12:76047366..76050837,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257839	Chromatin interaction
ENSG00000139289	Chromatin interaction

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

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

rs_ID	r²[population]
rs17115486	1.00[AMR][1000 genomes]
rs74109763	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	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76035600-76050400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:76036800-76050000	Weak transcription	NHLF	lung
3	chr12:76040800-76052200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:76042400-76046600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:76042600-76046800	Enhancers	HMEC	breast
6	chr12:76043600-76045600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:76044000-76045600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:76044000-76045600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:76044000-76046000	Enhancers	Liver	Liver
10	chr12:76044000-76046400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:76044200-76045400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:76044200-76045600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:76044400-76045200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr12:76044400-76045400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:76044400-76045400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:76044400-76045400	Enhancers	HepG2	liver
17	chr12:76044400-76045600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:76044400-76045600	Enhancers	NHDF-Ad	bronchial
19	chr12:76044400-76046000	Enhancers	NHEK	skin
20	chr12:76044600-76045200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr12:76044600-76045600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:76044600-76045600	Enhancers	NH-A	brain
23	chr12:76044800-76045600	Enhancers	Fetal Heart	heart
24	chr12:76044800-76045600	Enhancers	K562	blood
25	chr12:76045000-76045400	Enhancers	Fetal Intestine Small	intestine
26	chr12:76045000-76045600	Enhancers	Fetal Lung	lung
27	chr12:76045000-76045600	Enhancers	HSMM	muscle
28	chr12:76045000-76045600	Enhancers	HSMMtube	muscle
29	chr12:76045000-76052000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:76045000-76052800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:76045000-76064400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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