Variant report

Variant	rs55983865
Chromosome Location	chr12:48914755-48914756
allele	C/T
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:0)
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	PAX5	chr12:48914740-48915237	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48914755-48914805	AG09319	gingival:	n/a
2	chr12:48914755-48914805	HMEC	breast:	n/a
3	chr12:48914755-48914805	GM06990	blood:	n/a
4	chr12:48914755-48914805	SK-N-SH	brain:	n/a
5	chr12:48914755-48914805	H1-hESC	embryonic stem cell:	embryo
6	chr12:48914755-48914805	AG09309	skin:	n/a
7	chr12:48914755-48914805	Caco-2	colon:	n/a
8	chr12:48914755-48914805	HAEpiC	amniotic membrane:	n/a
9	chr12:48914755-48914805	SKMC	muscle:	n/a
10	chr12:48914755-48914805	AG04449	skin:	fetal
11	chr12:48914755-48914805	HL-60	blood:	n/a
12	chr12:48914755-48914805	SAEC	small airway:	n/a
13	chr12:48914755-48914805	Hepatocyte	liver:	n/a
14	chr12:48914755-48914805	NHDF-neo	bronchial:	n/a
15	chr12:48914755-48914805	PrEC	prostate:	n/a
16	chr12:48914755-48914805	HNPCEpiC	eye:	n/a
17	chr12:48914755-48914805	Hela-S3	cervix:	n/a
18	chr12:48914755-48914805	ovcar-3	ovarian:	n/a
19	chr12:48914755-48914805	BJ	skin:	n/a
20	chr12:48914755-48914805	K562	blood:	n/a
21	chr12:48914755-48914805	PANC-1	pancreas:	n/a
22	chr12:48914755-48914805	HCF	heart:	n/a
23	chr12:48914755-48914805	GM12878	blood:	n/a
24	chr12:48914755-48914805	HRCEpiC	kidney:	n/a
25	chr12:48914755-48914805	HPAEpiC	pulmonary alveolar:	n/a
26	chr12:48914755-48914805	IMR90	lung:	fetal
27	chr12:48914755-48914805	HCPEpiC	choroid plexus:	n/a
28	chr12:48914755-48914805	HRPEpiC	eye:	n/a
29	chr12:48914755-48914805	AG04450	lung:	fetal
30	chr12:48914755-48914805	HepG2	liver:	n/a
31	chr12:48914755-48914805	NH-A	brain:	n/a
32	chr12:48914755-48914805	GM19239	blood:	n/a
33	chr12:48914755-48914805	AoSMC	blood vessel:	n/a
34	chr12:48914755-48914805	ProgFib	skin:	n/a
35	chr12:48914755-48914805	RPTEC	kidney:	n/a
36	chr12:48914755-48914805	HEK293	kidney:	embryo
37	chr12:48914755-48914805	HCT-116	colon:	n/a
38	chr12:48914755-48914805	PFSK-1	brain:	n/a
39	chr12:48914755-48914805	HIPEpiC	eye:	n/a
40	chr12:48914755-48914805	T-47D	breast:	n/a
41	chr12:48914755-48914805	MCF10A-Er-Src	breast:	n/a
42	chr12:48914755-48914805	AG10803	skin:	n/a
43	chr12:48914755-48914805	Jurkat	blood:	n/a
44	chr12:48914755-48914805	HCM	heart:	n/a
45	chr12:48914755-48914805	GM12892	blood:	n/a
46	chr12:48914755-48914805	NHBE	bronchial:	n/a
47	chr12:48914755-48914805	HRE	kidney:	n/a
48	chr12:48914755-48914805	SK-N-SH_RA	brain:	n/a
49	chr12:48914755-48914805	ECC-1	luminal epithelium:	n/a
50	chr12:48914755-48914805	GM12891	blood:	n/a

No data

Variant related genes	Relation type
OR8S1	TF binding region
OR8S1	CpG island

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11168613	0.99[EUR][1000 genomes]
rs12578360	0.96[EUR][1000 genomes]
rs12579133	0.84[EUR][1000 genomes]
rs12580859	0.98[EUR][1000 genomes]
rs12581223	0.94[EUR][1000 genomes]
rs12582586	0.82[EUR][1000 genomes]
rs12582594	0.82[EUR][1000 genomes]
rs17234937	0.96[EUR][1000 genomes]
rs4397895	0.96[EUR][1000 genomes]
rs4426170	0.82[EUR][1000 genomes]
rs4547144	0.96[EUR][1000 genomes]
rs55667337	0.97[EUR][1000 genomes]
rs55685217	0.83[EUR][1000 genomes]
rs55971664	0.82[EUR][1000 genomes]
rs56034252	0.96[EUR][1000 genomes]
rs56191575	0.96[EUR][1000 genomes]
rs59337124	0.81[EUR][1000 genomes]
rs61940763	0.97[EUR][1000 genomes]
rs61940764	0.96[EUR][1000 genomes]
rs61940766	0.96[EUR][1000 genomes]
rs61940767	0.96[EUR][1000 genomes]
rs61940768	0.96[EUR][1000 genomes]
rs61940776	0.96[EUR][1000 genomes]
rs61940777	0.96[EUR][1000 genomes]
rs61940779	0.96[EUR][1000 genomes]
rs61940780	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61940822	0.98[EUR][1000 genomes]
rs61941972	0.83[EUR][1000 genomes]
rs61942812	0.81[EUR][1000 genomes]
rs61942813	0.82[EUR][1000 genomes]
rs61942816	0.82[EUR][1000 genomes]
rs61942817	0.82[EUR][1000 genomes]
rs61942828	0.95[EUR][1000 genomes]
rs61942829	0.96[EUR][1000 genomes]
rs61942830	0.95[EUR][1000 genomes]
rs61942831	0.97[EUR][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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	esv1803653	chr12:48905575-48923774	Weak transcription Active TSS ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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