Variant report

Variant	rs12123475
Chromosome Location	chr1:192611298-192611299
allele	C/T
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:0)
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	chr1:192611292-192611342	GM06990	blood:	n/a
2	chr1:192611292-192611342	AG09319	gingival:	n/a
3	chr1:192611292-192611342	GM19239	blood:	n/a
4	chr1:192611292-192611342	ovcar-3	ovarian:	n/a
5	chr1:192611292-192611342	AG10803	skin:	n/a
6	chr1:192611292-192611342	HAEpiC	amniotic membrane:	n/a
7	chr1:192611292-192611342	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:192611292-192611342	AG09309	skin:	n/a
9	chr1:192611292-192611342	HepG2	liver:	n/a
10	chr1:192611292-192611342	MCF-7	breast:	n/a
11	chr1:192611292-192611342	LNCaP	prostate:	n/a
12	chr1:192611292-192611342	NHDF-neo	bronchial:	n/a
13	chr1:192611292-192611342	NT2-D1	testis:	n/a
14	chr1:192611292-192611342	BJ	skin:	n/a
15	chr1:192611292-192611342	HEEpiC	esophagus:	n/a
16	chr1:192611292-192611342	HCT-116	colon:	n/a
17	chr1:192611292-192611342	SK-N-SH_RA	brain:	n/a
18	chr1:192611292-192611342	HCPEpiC	choroid plexus:	n/a
19	chr1:192611292-192611342	HL-60	blood:	n/a
20	chr1:192611292-192611342	CMK	blood:	n/a
21	chr1:192611292-192611342	RPTEC	kidney:	n/a
22	chr1:192611292-192611342	PFSK-1	brain:	n/a
23	chr1:192611292-192611342	NHBE	bronchial:	n/a
24	chr1:192611292-192611342	BE2_C	brain:	n/a
25	chr1:192611292-192611342	A549	lung:	n/a
26	chr1:192611292-192611342	HEK293	kidney:	embryo
27	chr1:192611292-192611342	NB4	blood:	n/a
28	chr1:192611292-192611342	Hepatocyte	liver:	n/a
29	chr1:192611292-192611342	GM12878	blood:	n/a
30	chr1:192611292-192611342	Jurkat	blood:	n/a
31	chr1:192611292-192611342	H1-hESC	embryonic stem cell:	embryo
32	chr1:192611292-192611342	PANC-1	pancreas:	n/a
33	chr1:192611292-192611342	T-47D	breast:	n/a
34	chr1:192611292-192611342	SK-N-MC	brain:	n/a
35	chr1:192611292-192611342	HIPEpiC	eye:	n/a
36	chr1:192611292-192611342	HUVEC	blood vessel:	n/a
37	chr1:192611292-192611342	AG04450	lung:	fetal
38	chr1:192611292-192611342	AoSMC	blood vessel:	n/a
39	chr1:192611292-192611342	HMEC	breast:	n/a
40	chr1:192611292-192611342	AG04449	skin:	fetal
41	chr1:192611292-192611342	GM12891	blood:	n/a
42	chr1:192611292-192611342	ECC-1	luminal epithelium:	n/a
43	chr1:192611292-192611342	ProgFib	skin:	n/a
44	chr1:192611292-192611342	HCM	heart:	n/a
45	chr1:192611292-192611342	PrEC	prostate:	n/a
46	chr1:192611292-192611342	K562	blood:	n/a
47	chr1:192611292-192611342	HRCEpiC	kidney:	n/a
48	chr1:192611292-192611342	IMR90	lung:	fetal
49	chr1:192611292-192611342	SAEC	small airway:	n/a
50	chr1:192611292-192611342	NH-A	brain:	n/a

No data

Variant related genes	Relation type
RGS13	CpG island

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10801137	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10801138	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10921223	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10921225	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12046733	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4287157	0.80[EUR][1000 genomes]
rs6657887	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6658382	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6698108	0.95[EUR][1000 genomes]
rs9287123	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9287124	0.94[EUR][1000 genomes];0.93[ASN][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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv467005	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv548659	chr1:192549912-192625360	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192600200-192620400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:192609600-192614000	Weak transcription	Ovary	ovary
3	chr1:192609800-192613000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:192609800-192613400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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