Variant report

Variant	rs4760673
Chromosome Location	chr12:48356109-48356110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:48356040-48356190	HRE	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48356074-48356124	BJ	skin:	n/a
2	chr12:48356074-48356124	Caco-2	colon:	n/a
3	chr12:48356074-48356124	LNCaP	prostate:	n/a
4	chr12:48356074-48356124	K562	blood:	n/a
5	chr12:48356074-48356124	NHBE	bronchial:	n/a
6	chr12:48356074-48356124	NHDF-neo	bronchial:	n/a
7	chr12:48356074-48356124	MCF10A-Er-Src	breast:	n/a
8	chr12:48356074-48356124	NB4	blood:	n/a
9	chr12:48356074-48356124	ovcar-3	ovarian:	n/a
10	chr12:48356074-48356124	GM12891	blood:	n/a
11	chr12:48356074-48356124	IMR90	lung:	fetal
12	chr12:48356074-48356124	T-47D	breast:	n/a
13	chr12:48356074-48356124	SK-N-SH_RA	brain:	n/a
14	chr12:48356074-48356124	AoSMC	blood vessel:	n/a
15	chr12:48356074-48356124	HPAEpiC	pulmonary alveolar:	n/a
16	chr12:48356074-48356124	HRE	kidney:	n/a
17	chr12:48356074-48356124	H1-hESC	embryonic stem cell:	embryo
18	chr12:48356074-48356124	SKMC	muscle:	n/a
19	chr12:48356074-48356124	AG09319	gingival:	n/a
20	chr12:48356074-48356124	AG04449	skin:	fetal
21	chr12:48356074-48356124	GM12892	blood:	n/a
22	chr12:48356074-48356124	HIPEpiC	eye:	n/a
23	chr12:48356074-48356124	AG09309	skin:	n/a
24	chr12:48356074-48356124	ECC-1	luminal epithelium:	n/a
25	chr12:48356074-48356124	HMEC	breast:	n/a
26	chr12:48356074-48356124	MCF-7	breast:	n/a
27	chr12:48356074-48356124	Hela-S3	cervix:	n/a
28	chr12:48356074-48356124	U87	brain:	n/a
29	chr12:48356074-48356124	HAEpiC	amniotic membrane:	n/a
30	chr12:48356074-48356124	GM19239	blood:	n/a
31	chr12:48356074-48356124	HL-60	blood:	n/a
32	chr12:48356074-48356124	Hepatocyte	liver:	n/a
33	chr12:48356074-48356124	HEEpiC	esophagus:	n/a
34	chr12:48356074-48356124	A549	lung:	n/a
35	chr12:48356074-48356124	AG10803	skin:	n/a
36	chr12:48356074-48356124	HNPCEpiC	eye:	n/a
37	chr12:48356074-48356124	SK-N-MC	brain:	n/a
38	chr12:48356074-48356124	PrEC	prostate:	n/a
39	chr12:48356074-48356124	HCM	heart:	n/a
40	chr12:48356074-48356124	HCF	heart:	n/a
41	chr12:48356074-48356124	GM06990	blood:	n/a
42	chr12:48356074-48356124	HRCEpiC	kidney:	n/a
43	chr12:48356074-48356124	RPTEC	kidney:	n/a
44	chr12:48356074-48356124	Jurkat	blood:	n/a
45	chr12:48356074-48356124	NH-A	brain:	n/a
46	chr12:48356074-48356124	CMK	blood:	n/a
47	chr12:48356074-48356124	HRPEpiC	eye:	n/a
48	chr12:48356074-48356124	HCT-116	colon:	n/a
49	chr12:48356074-48356124	HEK293	kidney:	embryo
50	chr12:48356074-48356124	AG04450	lung:	fetal

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48355845..48358792-chr12:48550018..48552863,2	K562	blood:
2	chr12:48355857..48357881-chr12:48473283..48476045,2	MCF-7	breast:
3	chr12:48296295..48301288-chr12:48356017..48360451,6	MCF-7	breast:
4	chr12:48347971..48349706-chr12:48354609..48357059,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMEM106C	TF binding region
TMEM106C	CpG island
ENSG00000177981	Chromatin interaction
ENSG00000111424	Chromatin interaction
ENSG00000222635	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1015390	0.84[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10875713	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11168324	0.80[ASN][1000 genomes]
rs11534913	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11541194	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11561406	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12721416	0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12721420	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4494362	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4760608	0.88[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4760673	FAM186B	cis	parietal	SCAN
rs4760673	ARID2	cis	cerebellum	SCAN
rs4760673	LOC255411	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48355000-48356200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:48356000-48357000	Enhancers	Fetal Lung	lung

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