Variant report

Variant	rs1254848
Chromosome Location	chr10:44434432-44434433
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	chr10:44434410-44434460	ProgFib	skin:	n/a
2	chr10:44434410-44434460	LNCaP	prostate:	n/a
3	chr10:44434410-44434460	SK-N-SH	brain:	n/a
4	chr10:44434410-44434460	Hepatocyte	liver:	n/a
5	chr10:44434410-44434460	HAEpiC	amniotic membrane:	n/a
6	chr10:44434410-44434460	GM19239	blood:	n/a
7	chr10:44434410-44434460	AG10803	skin:	n/a
8	chr10:44434410-44434460	HNPCEpiC	eye:	n/a
9	chr10:44434410-44434460	Hela-S3	cervix:	n/a
10	chr10:44434410-44434460	BE2_C	brain:	n/a
11	chr10:44434410-44434460	AoSMC	blood vessel:	n/a
12	chr10:44434410-44434460	HEK293	kidney:	embryo
13	chr10:44434410-44434460	HEEpiC	esophagus:	n/a
14	chr10:44434410-44434460	SAEC	small airway:	n/a
15	chr10:44434410-44434460	SKMC	muscle:	n/a
16	chr10:44434410-44434460	Jurkat	blood:	n/a
17	chr10:44434410-44434460	HRPEpiC	eye:	n/a
18	chr10:44434410-44434460	IMR90	lung:	fetal
19	chr10:44434410-44434460	NH-A	brain:	n/a
20	chr10:44434410-44434460	HRCEpiC	kidney:	n/a
21	chr10:44434410-44434460	PrEC	prostate:	n/a
22	chr10:44434410-44434460	NHBE	bronchial:	n/a
23	chr10:44434410-44434460	GM12892	blood:	n/a
24	chr10:44434410-44434460	HCPEpiC	choroid plexus:	n/a
25	chr10:44434410-44434460	HCT-116	colon:	n/a
26	chr10:44434410-44434460	HCF	heart:	n/a
27	chr10:44434410-44434460	HUVEC	blood vessel:	n/a
28	chr10:44434410-44434460	HCM	heart:	n/a
29	chr10:44434410-44434460	HPAEpiC	pulmonary alveolar:	n/a
30	chr10:44434410-44434460	NT2-D1	testis:	n/a
31	chr10:44434410-44434460	AG04449	skin:	fetal
32	chr10:44434410-44434460	ovcar-3	ovarian:	n/a
33	chr10:44434410-44434460	NHDF-neo	bronchial:	n/a
34	chr10:44434410-44434460	GM06990	blood:	n/a
35	chr10:44434410-44434460	AG09319	gingival:	n/a
36	chr10:44434410-44434460	NB4	blood:	n/a
37	chr10:44434410-44434460	MCF10A-Er-Src	breast:	n/a
38	chr10:44434410-44434460	Caco-2	colon:	n/a
39	chr10:44434410-44434460	HepG2	liver:	n/a
40	chr10:44434410-44434460	T-47D	breast:	n/a
41	chr10:44434410-44434460	RPTEC	kidney:	n/a
42	chr10:44434410-44434460	PANC-1	pancreas:	n/a
43	chr10:44434410-44434460	MCF-7	breast:	n/a
44	chr10:44434410-44434460	U87	brain:	n/a
45	chr10:44434410-44434460	GM12891	blood:	n/a
46	chr10:44434410-44434460	SK-N-SH_RA	brain:	n/a
47	chr10:44434410-44434460	A549	lung:	n/a
48	chr10:44434410-44434460	CMK	blood:	n/a
49	chr10:44434410-44434460	SK-N-MC	brain:	n/a
50	chr10:44434410-44434460	BJ	skin:	n/a

No data

Variant related genes	Relation type
LINC00841	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1147904	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1147907	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1147908	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1147909	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12413005	0.85[ASN][1000 genomes]
rs1254673	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1254674	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1254860	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1380838	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1460542	0.90[ASN][1000 genomes]
rs1977341	0.93[ASN][1000 genomes]
rs2798998	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73283848	0.92[ASN][1000 genomes]

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	nsv1051921	chr10:44378011-44458880	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44422800-44437600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:44434200-44434600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr10:44434200-44438400	Enhancers	Fetal Brain Male	brain
4	chr10:44434200-44438800	Enhancers	Fetal Muscle Leg	muscle
5	chr10:44434400-44434600	Enhancers	Pancreas	Pancrea
6	chr10:44434400-44434600	Enhancers	Right Atrium	heart
7	chr10:44434400-44434600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr10:44434400-44436400	Enhancers	GM12878-XiMat	blood
9	chr10:44434400-44438200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr10:44434400-44438600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:44434400-44438600	Enhancers	NHDF-Ad	bronchial
12	chr10:44434400-44441600	Enhancers	Fetal Heart	heart

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