Variant report

Variant	rs73363680
Chromosome Location	chr12:76094189-76094190
allele	A/C
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	TCF7L2	chr12:76093544-76094247	HCT-116	colon:	n/a	n/a
2	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
ENSG00000257453	Chromatin interaction
ENSG00000251893	Chromatin interaction
ENSG00000258245	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000257839	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17115491	0.85[AFR][1000 genomes]
rs59665018	0.80[AFR][1000 genomes]
rs61279777	1.00[AFR][1000 genomes]
rs6582295	0.89[AFR][1000 genomes]
rs73363650	0.92[AFR][1000 genomes]
rs73363654	0.92[AFR][1000 genomes]
rs73363656	0.92[AFR][1000 genomes]
rs73363659	0.92[AFR][1000 genomes]
rs73363669	0.87[AFR][1000 genomes]
rs73363672	0.87[AFR][1000 genomes]
rs73363673	0.92[AFR][1000 genomes]
rs73363685	0.87[AFR][1000 genomes]
rs73363692	0.87[AFR][1000 genomes]
rs74109628	1.00[AFR][1000 genomes]
rs74112478	0.87[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:32 , 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	chr12:76093400-76094200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:76093400-76094200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:76093400-76094200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:76093400-76094200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:76093400-76094200	Enhancers	Fetal Heart	heart
19	chr12:76093400-76094200	Enhancers	K562	blood
20	chr12:76093600-76094200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:76093600-76094200	Enhancers	Psoas Muscle	Psoas
22	chr12:76093600-76094200	Enhancers	HSMM	muscle
23	chr12:76093600-76094200	Active TSS	HSMMtube	muscle
24	chr12:76093600-76094200	Enhancers	NHLF	lung
25	chr12:76093800-76094200	Flanking Active TSS	HUVEC	blood vessel
26	chr12:76093800-76097000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:76093800-76097200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:76093800-76098000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:76094000-76095600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr12:76094000-76095800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:76094000-76097000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:76094000-76097200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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