Variant report

Variant	rs10494274
Chromosome Location	chr1:152132870-152132871
allele	C/G
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:1)
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	chr1:152132853-152132903	HEK293	kidney:	embryo
2	chr1:152132853-152132903	GM12892	blood:	n/a
3	chr1:152132853-152132903	Jurkat	blood:	n/a
4	chr1:152132853-152132903	LNCaP	prostate:	n/a
5	chr1:152132853-152132903	AoSMC	blood vessel:	n/a
6	chr1:152132853-152132903	Caco-2	colon:	n/a
7	chr1:152132853-152132903	A549	lung:	n/a
8	chr1:152132853-152132903	HRPEpiC	eye:	n/a
9	chr1:152132853-152132903	PANC-1	pancreas:	n/a
10	chr1:152132853-152132903	AG04449	skin:	fetal
11	chr1:152132853-152132903	HCM	heart:	n/a
12	chr1:152132853-152132903	SK-N-MC	brain:	n/a
13	chr1:152132853-152132903	HL-60	blood:	n/a
14	chr1:152132853-152132903	NB4	blood:	n/a
15	chr1:152132853-152132903	GM12891	blood:	n/a
16	chr1:152132853-152132903	Hepatocyte	liver:	n/a
17	chr1:152132853-152132903	H1-hESC	embryonic stem cell:	embryo
18	chr1:152132853-152132903	HCT-116	colon:	n/a
19	chr1:152132853-152132903	AG10803	skin:	n/a
20	chr1:152132853-152132903	HepG2	liver:	n/a
21	chr1:152132853-152132903	GM06990	blood:	n/a
22	chr1:152132853-152132903	SAEC	small airway:	n/a
23	chr1:152132853-152132903	AG09319	gingival:	n/a
24	chr1:152132853-152132903	U87	brain:	n/a
25	chr1:152132853-152132903	PrEC	prostate:	n/a
26	chr1:152132853-152132903	CMK	blood:	n/a
27	chr1:152132853-152132903	K562	blood:	n/a
28	chr1:152132853-152132903	HPAEpiC	pulmonary alveolar:	n/a
29	chr1:152132853-152132903	HRE	kidney:	n/a
30	chr1:152132853-152132903	HRCEpiC	kidney:	n/a
31	chr1:152132853-152132903	SKMC	muscle:	n/a
32	chr1:152132853-152132903	GM19239	blood:	n/a
33	chr1:152132853-152132903	HCF	heart:	n/a
34	chr1:152132853-152132903	HCPEpiC	choroid plexus:	n/a
35	chr1:152132853-152132903	GM12878	blood:	n/a
36	chr1:152132853-152132903	HAEpiC	amniotic membrane:	n/a
37	chr1:152132853-152132903	HNPCEpiC	eye:	n/a
38	chr1:152132853-152132903	HIPEpiC	eye:	n/a
39	chr1:152132853-152132903	HUVEC	blood vessel:	n/a
40	chr1:152132853-152132903	NT2-D1	testis:	n/a
41	chr1:152132853-152132903	NH-A	brain:	n/a
42	chr1:152132853-152132903	ProgFib	skin:	n/a
43	chr1:152132853-152132903	T-47D	breast:	n/a
44	chr1:152132853-152132903	NHDF-neo	bronchial:	n/a
45	chr1:152132853-152132903	AG09309	skin:	n/a
46	chr1:152132853-152132903	ECC-1	luminal epithelium:	n/a
47	chr1:152132853-152132903	SK-N-SH_RA	brain:	n/a
48	chr1:152132853-152132903	NHBE	bronchial:	n/a
49	chr1:152132853-152132903	AG04450	lung:	fetal
50	chr1:152132853-152132903	RPTEC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152131910..152133806-chr1:152139927..152142470,2	MCF-7	breast:

No data

Variant related genes	Relation type
RPTN	CpG island
ENSG00000237975	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11582331	1.00[CEU][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1845792	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1979637	0.85[CEU][hapmap]
rs4525041	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6680866	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6682710	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1014095	chr1:152104486-152454591	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10494274	FLG	cis	Thyroid	GTEx
rs10494274	FLG-AS1	cis	Thyroid	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152126800-152134400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:152129800-152133200	Weak transcription	GM12878-XiMat	blood
3	chr1:152131200-152135200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:152131400-152133800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:152131400-152145800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:152131600-152137000	Weak transcription	Stomach Mucosa	stomach
7	chr1:152131800-152133000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:152131800-152135200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:152132200-152135000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:152132200-152135000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:152132200-152135000	Weak transcription	Osteobl	bone
12	chr1:152132400-152133000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr1:152132400-152134800	Weak transcription	NHDF-Ad	bronchial
14	chr1:152132600-152133000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:152132800-152133200	Enhancers	Primary hematopoietic stem cells	blood

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