Variant report

Variant	rs12310580
Chromosome Location	chr12:50105419-50105420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50105418-50105468	AG10803	skin:	n/a
2	chr12:50105418-50105468	K562	blood:	n/a
3	chr12:50105418-50105468	MCF10A-Er-Src	breast:	n/a
4	chr12:50105418-50105468	CMK	blood:	n/a
5	chr12:50105418-50105468	HCPEpiC	choroid plexus:	n/a
6	chr12:50105418-50105468	HCT-116	colon:	n/a
7	chr12:50105418-50105468	GM12892	blood:	n/a
8	chr12:50105418-50105468	HUVEC	blood vessel:	n/a
9	chr12:50105418-50105468	HIPEpiC	eye:	n/a
10	chr12:50105418-50105468	SAEC	small airway:	n/a
11	chr12:50105418-50105468	PrEC	prostate:	n/a
12	chr12:50105418-50105468	NT2-D1	testis:	n/a
13	chr12:50105418-50105468	U87	brain:	n/a
14	chr12:50105418-50105468	RPTEC	kidney:	n/a
15	chr12:50105418-50105468	HCM	heart:	n/a
16	chr12:50105418-50105468	GM19239	blood:	n/a
17	chr12:50105418-50105468	ProgFib	skin:	n/a
18	chr12:50105418-50105468	Jurkat	blood:	n/a
19	chr12:50105418-50105468	T-47D	breast:	n/a
20	chr12:50105418-50105468	GM12891	blood:	n/a
21	chr12:50105418-50105468	HAEpiC	amniotic membrane:	n/a
22	chr12:50105418-50105468	LNCaP	prostate:	n/a
23	chr12:50105418-50105468	ECC-1	luminal epithelium:	n/a
24	chr12:50105418-50105468	PFSK-1	brain:	n/a
25	chr12:50105418-50105468	AG04450	lung:	fetal
26	chr12:50105418-50105468	Hela-S3	cervix:	n/a
27	chr12:50105418-50105468	Hepatocyte	liver:	n/a
28	chr12:50105418-50105468	NHBE	bronchial:	n/a
29	chr12:50105418-50105468	MCF-7	breast:	n/a
30	chr12:50105418-50105468	HRE	kidney:	n/a
31	chr12:50105418-50105468	Caco-2	colon:	n/a
32	chr12:50105418-50105468	SK-N-SH_RA	brain:	n/a
33	chr12:50105418-50105468	H1-hESC	embryonic stem cell:	embryo
34	chr12:50105418-50105468	NH-A	brain:	n/a
35	chr12:50105418-50105468	BE2_C	brain:	n/a
36	chr12:50105418-50105468	HMEC	breast:	n/a
37	chr12:50105418-50105468	BJ	skin:	n/a
38	chr12:50105418-50105468	HepG2	liver:	n/a
39	chr12:50105418-50105468	AG09309	skin:	n/a
40	chr12:50105418-50105468	HPAEpiC	pulmonary alveolar:	n/a
41	chr12:50105418-50105468	HEK293	kidney:	embryo
42	chr12:50105418-50105468	AG04449	skin:	fetal
43	chr12:50105418-50105468	IMR90	lung:	fetal
44	chr12:50105418-50105468	NHDF-neo	bronchial:	n/a
45	chr12:50105418-50105468	SK-N-MC	brain:	n/a
46	chr12:50105418-50105468	SKMC	muscle:	n/a
47	chr12:50105418-50105468	PANC-1	pancreas:	n/a
48	chr12:50105418-50105468	NB4	blood:	n/a
49	chr12:50105418-50105468	HNPCEpiC	eye:	n/a
50	chr12:50105418-50105468	ovcar-3	ovarian:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50032361..50035180-chr12:50104172..50106546,2	K562	blood:
2	chr12:50099766..50103011-chr12:50104011..50107575,4	K562	blood:
3	chr12:49959737..49961730-chr12:50105169..50106814,2	K562	blood:

No data

Variant related genes	Relation type
FMNL3	CpG island
ENSG00000187778	Chromatin interaction
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10128824	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11169123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299743	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299751	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300919	0.83[AFR][1000 genomes]
rs12300962	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306951	1.00[AMR][1000 genomes]
rs12312112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314036	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12315508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317162	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12319527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12320895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1317263	1.00[AMR][1000 genomes]
rs17119738	1.00[AMR][1000 genomes]
rs17123787	1.00[AMR][1000 genomes]
rs17123827	1.00[AMR][1000 genomes]
rs17123879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17123924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9804867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9805090	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50102200-50114600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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