Variant report

Variant	rs2120293
Chromosome Location	chr10:18240640-18240641
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	chr10:18240598-18240648	Caco-2	colon:	n/a
2	chr10:18240598-18240648	IMR90	lung:	fetal
3	chr10:18240598-18240648	AG10803	skin:	n/a
4	chr10:18240598-18240648	HNPCEpiC	eye:	n/a
5	chr10:18240598-18240648	AG09309	skin:	n/a
6	chr10:18240598-18240648	ECC-1	luminal epithelium:	n/a
7	chr10:18240598-18240648	HRE	kidney:	n/a
8	chr10:18240598-18240648	HRPEpiC	eye:	n/a
9	chr10:18240598-18240648	GM12878	blood:	n/a
10	chr10:18240598-18240648	SKMC	muscle:	n/a
11	chr10:18240598-18240648	HEK293	kidney:	embryo
12	chr10:18240598-18240648	HEEpiC	esophagus:	n/a
13	chr10:18240598-18240648	HepG2	liver:	n/a
14	chr10:18240598-18240648	Jurkat	blood:	n/a
15	chr10:18240598-18240648	Hela-S3	cervix:	n/a
16	chr10:18240598-18240648	U87	brain:	n/a
17	chr10:18240598-18240648	CMK	blood:	n/a
18	chr10:18240598-18240648	GM12892	blood:	n/a
19	chr10:18240598-18240648	NT2-D1	testis:	n/a
20	chr10:18240598-18240648	BJ	skin:	n/a
21	chr10:18240598-18240648	HCM	heart:	n/a
22	chr10:18240598-18240648	Hepatocyte	liver:	n/a
23	chr10:18240598-18240648	PrEC	prostate:	n/a
24	chr10:18240598-18240648	MCF-7	breast:	n/a
25	chr10:18240598-18240648	NH-A	brain:	n/a
26	chr10:18240598-18240648	AoSMC	blood vessel:	n/a
27	chr10:18240598-18240648	HIPEpiC	eye:	n/a
28	chr10:18240598-18240648	BE2_C	brain:	n/a
29	chr10:18240598-18240648	SK-N-MC	brain:	n/a
30	chr10:18240598-18240648	HCF	heart:	n/a
31	chr10:18240598-18240648	PANC-1	pancreas:	n/a
32	chr10:18240598-18240648	GM19239	blood:	n/a
33	chr10:18240598-18240648	AG04449	skin:	fetal
34	chr10:18240598-18240648	HPAEpiC	pulmonary alveolar:	n/a
35	chr10:18240598-18240648	SK-N-SH	brain:	n/a
36	chr10:18240598-18240648	HMEC	breast:	n/a
37	chr10:18240598-18240648	HRCEpiC	kidney:	n/a
38	chr10:18240598-18240648	MCF10A-Er-Src	breast:	n/a
39	chr10:18240598-18240648	HCT-116	colon:	n/a
40	chr10:18240598-18240648	ProgFib	skin:	n/a
41	chr10:18240598-18240648	SAEC	small airway:	n/a
42	chr10:18240598-18240648	GM06990	blood:	n/a
43	chr10:18240598-18240648	NB4	blood:	n/a
44	chr10:18240598-18240648	RPTEC	kidney:	n/a
45	chr10:18240598-18240648	K562	blood:	n/a
46	chr10:18240598-18240648	HAEpiC	amniotic membrane:	n/a
47	chr10:18240598-18240648	HUVEC	blood vessel:	n/a
48	chr10:18240598-18240648	AG09319	gingival:	n/a
49	chr10:18240598-18240648	A549	lung:	n/a
50	chr10:18240598-18240648	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
SLC39A12	CpG island

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10508554	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10764176	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10827902	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10827910	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10827911	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11011748	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11594574	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12249671	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12262907	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12359511	0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2165899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28482234	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4641364	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4748429	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4748431	0.86[ASW][hapmap];0.91[YRI][hapmap]
rs6482070	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085542	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7095391	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7896039	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs966720	0.91[CEU][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.89[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	esv2755188	chr10:17881747-18292594	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv3415320	chr10:18122232-18333356	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18239200-18244200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:18240200-18242400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr10:18240400-18241200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:18240400-18241200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:18240600-18240800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr10:18240600-18241200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:18240600-18241200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr10:18240600-18241200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:18240600-18242200	Enhancers	Osteobl	bone
10	chr10:18240600-18242400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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