Variant report

Variant	rs5013124
Chromosome Location	chr3:141585189-141585190
allele	A/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:3)
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	chr3:141585169-141585219	A549	lung:	n/a
2	chr3:141585169-141585219	T-47D	breast:	n/a
3	chr3:141585169-141585219	HEEpiC	esophagus:	n/a
4	chr3:141585169-141585219	NHBE	bronchial:	n/a
5	chr3:141585169-141585219	HEK293	kidney:	embryo
6	chr3:141585169-141585219	NT2-D1	testis:	n/a
7	chr3:141585169-141585219	AoSMC	blood vessel:	n/a
8	chr3:141585169-141585219	BJ	skin:	n/a
9	chr3:141585169-141585219	HCF	heart:	n/a
10	chr3:141585169-141585219	AG04449	skin:	fetal
11	chr3:141585169-141585219	GM19239	blood:	n/a
12	chr3:141585169-141585219	AG09319	gingival:	n/a
13	chr3:141585169-141585219	SK-N-SH_RA	brain:	n/a
14	chr3:141585169-141585219	SAEC	small airway:	n/a
15	chr3:141585169-141585219	HL-60	blood:	n/a
16	chr3:141585169-141585219	GM12878	blood:	n/a
17	chr3:141585169-141585219	Caco-2	colon:	n/a
18	chr3:141585169-141585219	Hela-S3	cervix:	n/a
19	chr3:141585169-141585219	IMR90	lung:	fetal
20	chr3:141585169-141585219	GM12891	blood:	n/a
21	chr3:141585169-141585219	RPTEC	kidney:	n/a
22	chr3:141585169-141585219	HAEpiC	amniotic membrane:	n/a
23	chr3:141585169-141585219	HPAEpiC	pulmonary alveolar:	n/a
24	chr3:141585169-141585219	CMK	blood:	n/a
25	chr3:141585169-141585219	HCT-116	colon:	n/a
26	chr3:141585169-141585219	MCF-7	breast:	n/a
27	chr3:141585169-141585219	ECC-1	luminal epithelium:	n/a
28	chr3:141585169-141585219	BE2_C	brain:	n/a
29	chr3:141585169-141585219	HepG2	liver:	n/a
30	chr3:141585169-141585219	MCF10A-Er-Src	breast:	n/a
31	chr3:141585169-141585219	HMEC	breast:	n/a
32	chr3:141585169-141585219	HCPEpiC	choroid plexus:	n/a
33	chr3:141585169-141585219	PrEC	prostate:	n/a
34	chr3:141585169-141585219	PFSK-1	brain:	n/a
35	chr3:141585169-141585219	HUVEC	blood vessel:	n/a
36	chr3:141585169-141585219	HRE	kidney:	n/a
37	chr3:141585169-141585219	PANC-1	pancreas:	n/a
38	chr3:141585169-141585219	ProgFib	skin:	n/a
39	chr3:141585169-141585219	NHDF-neo	bronchial:	n/a
40	chr3:141585169-141585219	AG04450	lung:	fetal
41	chr3:141585169-141585219	AG10803	skin:	n/a
42	chr3:141585169-141585219	GM06990	blood:	n/a
43	chr3:141585169-141585219	H1-hESC	embryonic stem cell:	embryo
44	chr3:141585169-141585219	K562	blood:	n/a
45	chr3:141585169-141585219	SK-N-MC	brain:	n/a
46	chr3:141585169-141585219	NH-A	brain:	n/a
47	chr3:141585169-141585219	U87	brain:	n/a
48	chr3:141585169-141585219	GM12892	blood:	n/a
49	chr3:141585169-141585219	HRCEpiC	kidney:	n/a
50	chr3:141585169-141585219	HNPCEpiC	eye:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:141582963..141586740-chr3:141593075..141596909,5	MCF-7	breast:
2	chr3:141581516..141585437-chr3:141593335..141595315,3	K562	blood:
3	chr3:141584573..141592119-chr3:141592759..141599123,14	K562	blood:

No data

Variant related genes	Relation type
HMGN2P25	CpG island
ENSG00000069849	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1073464	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12386355	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13059220	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13061474	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13067998	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13069329	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13082115	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13086153	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1897139	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35681935	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4260404	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8179925	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8179994	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9810380	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9822066	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9827902	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9836116	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9850595	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9855878	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9858477	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9873028	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9878540	0.96[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][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	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141580800-141588600	Weak transcription	HUVEC	blood vessel
2	chr3:141581800-141585400	Weak transcription	K562	blood
3	chr3:141583800-141588800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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