Variant report

Variant	rs703832
Chromosome Location	chr12:58024626-58024627
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57912525..57914628-chr12:58024523..58026539,2	MCF-7	breast:
2	chr12:57908910..57916122-chr12:58022622..58031573,17	K562	blood:
3	chr12:57916469..57918452-chr12:58024223..58025919,2	K562	blood:
4	chr12:57939451..57941325-chr12:58024374..58027583,3	K562	blood:
5	chr12:57908910..57916403-chr12:58022622..58028885,15	K562	blood:

Variant related genes	Relation type
ENSG00000208028	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000175203	Chromatin interaction
ENSG00000166986	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10082911	0.89[EUR][1000 genomes]
rs10083154	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10783836	0.87[EUR][1000 genomes]
rs10783842	0.84[EUR][1000 genomes]
rs10783843	0.80[EUR][1000 genomes]
rs10783844	0.89[EUR][1000 genomes]
rs1082502	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1082503	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10877001	0.90[EUR][1000 genomes]
rs10877006	0.89[EUR][1000 genomes]
rs10877007	0.88[EUR][1000 genomes]
rs10877008	0.90[EUR][1000 genomes]
rs1092472	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11172277	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11172306	0.89[EUR][1000 genomes]
rs12302351	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12302451	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12314562	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12316021	0.84[EUR][1000 genomes]
rs12809742	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1585781	0.91[EUR][1000 genomes]
rs1628552	0.90[EUR][1000 genomes]
rs1629032	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678504	0.84[EUR][1000 genomes]
rs1678505	0.84[EUR][1000 genomes]
rs1678511	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1678512	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1678513	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1678515	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1678516	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1678519	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1678520	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1678522	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1678527	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1678529	0.90[EUR][1000 genomes]
rs1678530	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1678531	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1678532	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1678534	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1678539	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1689584	0.90[EUR][1000 genomes]
rs1689585	0.89[EUR][1000 genomes]
rs1689586	0.89[EUR][1000 genomes]
rs1689592	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1689594	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1689595	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1689596	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1689597	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1689600	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1689601	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1689603	0.81[AMR][1000 genomes]
rs1689604	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1871417	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2169987	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2277322	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2619441	0.89[EUR][1000 genomes]
rs2619466	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2640630	0.90[EUR][1000 genomes]
rs2640631	0.91[EUR][1000 genomes]
rs2928053	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2928054	0.84[EUR][1000 genomes]
rs2928055	0.86[EUR][1000 genomes]
rs2928061	0.90[EUR][1000 genomes]
rs2928062	0.84[EUR][1000 genomes]
rs2928064	0.83[EUR][1000 genomes]
rs3825078	0.84[EUR][1000 genomes]
rs4760164	0.89[EUR][1000 genomes]
rs4760165	0.90[EUR][1000 genomes]
rs4760168	0.83[EUR][1000 genomes]
rs7136269	0.91[EUR][1000 genomes]
rs7314152	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs774887	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs774888	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs774891	0.90[EUR][1000 genomes]
rs7976852	0.89[EUR][1000 genomes]
rs7979246	0.86[EUR][1000 genomes]
rs799575	0.91[EUR][1000 genomes]
rs810204	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs703832	FAM119B	Cis_1M	lymphoblastoid	RTeQTL
rs703832	TSFM	Cis_1M	lymphoblastoid	RTeQTL
rs703832	SLC26A10	cis	Heart Left Ventricle	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58017000-58025000	Weak transcription	K562	blood
2	chr12:58019400-58025200	Weak transcription	Hela-S3	cervix
3	chr12:58020400-58024800	Weak transcription	HepG2	liver
4	chr12:58020600-58024800	Strong transcription	A549	lung
5	chr12:58020600-58026200	Weak transcription	Aorta	Aorta
6	chr12:58020800-58025200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:58021400-58025600	Weak transcription	HMEC	breast
8	chr12:58021600-58024800	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:58022000-58025600	Weak transcription	Pancreas	Pancrea
10	chr12:58022600-58025600	Weak transcription	Gastric	stomach
11	chr12:58023000-58025600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:58023200-58024800	Enhancers	Brain Anterior Caudate	brain
13	chr12:58023400-58025400	Enhancers	Brain Cingulate Gyrus	brain
14	chr12:58023800-58024800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:58024000-58024800	Enhancers	Brain Angular Gyrus	brain
16	chr12:58024000-58025000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:58024000-58025000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:58024000-58025800	Enhancers	Brain Substantia Nigra	brain
19	chr12:58024200-58025600	Weak transcription	Psoas Muscle	Psoas
20	chr12:58024400-58024800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr12:58024400-58025000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:58024600-58024800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:58024600-58024800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
24	chr12:58024600-58024800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
25	chr12:58024600-58025200	Bivalent Enhancer	Fetal Brain Male	brain
26	chr12:58024600-58025400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr12:58024600-58025400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
28	chr12:58024600-58025600	Flanking Active TSS	Fetal Brain Female	brain

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