Variant report

Variant	rs7295484
Chromosome Location	chr12:76094341-76094342
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr12:76093289-76094360	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76092093..76110851-chr12:76415034..76433496,122	MCF-7	breast:
2	chr12:76082441..76084342-chr12:76093010..76095736,2	K562	blood:

Variant related genes	Relation type
ENSG00000258088	TF binding region
ENSG00000251893	Chromatin interaction
ENSG00000257453	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000258245	Chromatin interaction
ENSG00000257839	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11180624	0.90[ASN][1000 genomes]
rs11180625	0.93[ASN][1000 genomes]
rs11180639	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180640	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180644	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12315800	0.98[ASN][1000 genomes]
rs12319659	1.00[ASN][1000 genomes]
rs12812846	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12822896	1.00[ASN][1000 genomes]
rs12826237	1.00[ASN][1000 genomes]
rs17223072	1.00[ASN][1000 genomes]
rs17223194	0.98[ASN][1000 genomes]
rs17223651	1.00[ASN][1000 genomes]
rs2367073	1.00[ASN][1000 genomes]
rs2367074	1.00[ASN][1000 genomes]
rs34724924	0.95[ASN][1000 genomes]
rs35094428	0.90[ASN][1000 genomes]
rs35813830	1.00[ASN][1000 genomes]
rs35881531	0.88[ASN][1000 genomes]
rs67943440	0.93[ASN][1000 genomes]
rs7132221	1.00[ASN][1000 genomes]
rs71460142	1.00[ASN][1000 genomes]
rs71460144	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7295259	1.00[ASN][1000 genomes]
rs7295806	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73124349	1.00[ASN][1000 genomes]
rs7313785	1.00[ASN][1000 genomes]
rs7967547	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7978873	0.85[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	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
2	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
3	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
4	nsv899314	chr12:76079814-76110751	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr12:76076200-76098400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:76079400-76099800	Weak transcription	Right Atrium	heart
3	chr12:76084600-76099600	Weak transcription	Pancreas	Pancrea
4	chr12:76086800-76099400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:76088600-76098600	Weak transcription	NHDF-Ad	bronchial
6	chr12:76088800-76100600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:76089000-76097000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:76089000-76100600	Weak transcription	HMEC	breast
9	chr12:76089200-76098600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:76089600-76099800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:76089600-76100200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:76089600-76100400	Weak transcription	NHEK	skin
13	chr12:76092800-76095800	Weak transcription	Left Ventricle	heart
14	chr12:76093800-76097000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:76093800-76097200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr12:76093800-76098000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:76094000-76095600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr12:76094000-76095800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:76094000-76097000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:76094000-76097200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:76094200-76095400	Enhancers	HUVEC	blood vessel
22	chr12:76094200-76097200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:76094200-76097200	Weak transcription	Fetal Heart	heart
24	chr12:76094200-76097800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:76094200-76098000	Weak transcription	K562	blood
26	chr12:76094200-76098600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:76094200-76098600	Weak transcription	NHLF	lung
28	chr12:76094200-76098800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:76094200-76098800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:76094200-76099400	Weak transcription	HSMMtube	muscle
31	chr12:76094200-76100200	Weak transcription	Psoas Muscle	Psoas

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