Variant report

Variant	rs919015
Chromosome Location	chr4:124694678-124694679
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:2)
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	chr4:124694661-124694711	HRCEpiC	kidney:	n/a
2	chr4:124694661-124694711	AG10803	skin:	n/a
3	chr4:124694661-124694711	NHDF-neo	bronchial:	n/a
4	chr4:124694661-124694711	Hepatocyte	liver:	n/a
5	chr4:124694661-124694711	T-47D	breast:	n/a
6	chr4:124694661-124694711	SK-N-SH_RA	brain:	n/a
7	chr4:124694661-124694711	SKMC	muscle:	n/a
8	chr4:124694661-124694711	AG04449	skin:	fetal
9	chr4:124694661-124694711	ECC-1	luminal epithelium:	n/a
10	chr4:124694661-124694711	PrEC	prostate:	n/a
11	chr4:124694661-124694711	HMEC	breast:	n/a
12	chr4:124694661-124694711	SAEC	small airway:	n/a
13	chr4:124694661-124694711	HPAEpiC	pulmonary alveolar:	n/a
14	chr4:124694661-124694711	AoSMC	blood vessel:	n/a
15	chr4:124694661-124694711	NH-A	brain:	n/a
16	chr4:124694661-124694711	ovcar-3	ovarian:	n/a
17	chr4:124694661-124694711	SK-N-SH	brain:	n/a
18	chr4:124694661-124694711	HNPCEpiC	eye:	n/a
19	chr4:124694661-124694711	NHBE	bronchial:	n/a
20	chr4:124694661-124694711	HCPEpiC	choroid plexus:	n/a
21	chr4:124694661-124694711	RPTEC	kidney:	n/a
22	chr4:124694661-124694711	A549	lung:	n/a
23	chr4:124694661-124694711	HIPEpiC	eye:	n/a
24	chr4:124694661-124694711	NT2-D1	testis:	n/a
25	chr4:124694661-124694711	PANC-1	pancreas:	n/a
26	chr4:124694661-124694711	GM12878	blood:	n/a
27	chr4:124694661-124694711	HL-60	blood:	n/a
28	chr4:124694661-124694711	MCF10A-Er-Src	breast:	n/a
29	chr4:124694661-124694711	LNCaP	prostate:	n/a
30	chr4:124694661-124694711	MCF-7	breast:	n/a
31	chr4:124694661-124694711	HRE	kidney:	n/a
32	chr4:124694661-124694711	U87	brain:	n/a
33	chr4:124694661-124694711	GM19239	blood:	n/a
34	chr4:124694661-124694711	GM06990	blood:	n/a
35	chr4:124694661-124694711	HCT-116	colon:	n/a
36	chr4:124694661-124694711	Jurkat	blood:	n/a
37	chr4:124694661-124694711	GM12892	blood:	n/a
38	chr4:124694661-124694711	CMK	blood:	n/a
39	chr4:124694661-124694711	BJ	skin:	n/a
40	chr4:124694661-124694711	GM12891	blood:	n/a
41	chr4:124694661-124694711	BE2_C	brain:	n/a
42	chr4:124694661-124694711	ProgFib	skin:	n/a
43	chr4:124694661-124694711	HAEpiC	amniotic membrane:	n/a
44	chr4:124694661-124694711	SK-N-MC	brain:	n/a
45	chr4:124694661-124694711	K562	blood:	n/a
46	chr4:124694661-124694711	AG09319	gingival:	n/a
47	chr4:124694661-124694711	HCF	heart:	n/a
48	chr4:124694661-124694711	Hela-S3	cervix:	n/a
49	chr4:124694661-124694711	PFSK-1	brain:	n/a
50	chr4:124694661-124694711	IMR90	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124693787..124694688-chr4:125032781..125033558,3	MCF-7	breast:
2	chr4:124688857..124690611-chr4:124692312..124695187,2	K562	blood:

No data

Variant related genes	Relation type
LINC01091	CpG island

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10030323	0.81[EUR][1000 genomes]
rs10518423	0.88[EUR][1000 genomes]
rs11098720	0.88[EUR][1000 genomes]
rs11098721	0.88[EUR][1000 genomes]
rs11940296	0.89[EUR][1000 genomes]
rs11945657	0.82[EUR][1000 genomes]
rs12501940	0.89[EUR][1000 genomes]
rs12511921	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1364872	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1368507	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1425418	0.88[EUR][1000 genomes]
rs16997770	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17007229	0.87[EUR][1000 genomes]
rs17007245	0.88[EUR][1000 genomes]
rs1820372	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2060286	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28776500	0.89[EUR][1000 genomes]
rs35477987	0.88[EUR][1000 genomes]
rs4833287	0.81[EUR][1000 genomes]
rs4833288	0.89[EUR][1000 genomes]
rs4833940	0.89[EUR][1000 genomes]
rs4833953	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57303010	0.89[EUR][1000 genomes]
rs6820127	0.89[EUR][1000 genomes]
rs6820130	0.90[EUR][1000 genomes]
rs6823436	0.89[EUR][1000 genomes]
rs6825185	0.90[EUR][1000 genomes]
rs6847923	0.88[EUR][1000 genomes]
rs6848387	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72621841	0.82[EUR][1000 genomes]
rs72621843	0.89[EUR][1000 genomes]
rs72621845	0.82[EUR][1000 genomes]
rs7659752	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7683595	0.82[EUR][1000 genomes]
rs963892	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv830047	chr4:124504051-124699142	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1001751	chr4:124693346-124733305	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124687000-124704600	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:124689600-124698200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:124689600-124698200	Weak transcription	Aorta	Aorta
4	chr4:124694200-124697600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:124694200-124707800	Weak transcription	Pancreas	Pancrea

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