Variant report

Variant	rs57994439
Chromosome Location	chr5:147695456-147695457
allele	A/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:0)
LncRNA
region (count:1)
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	chr5:147695455-147695505	HCF	heart:	n/a
2	chr5:147695455-147695505	Hepatocyte	liver:	n/a
3	chr5:147695455-147695505	T-47D	breast:	n/a
4	chr5:147695455-147695505	HRE	kidney:	n/a
5	chr5:147695455-147695505	AG04450	lung:	fetal
6	chr5:147695455-147695505	GM12891	blood:	n/a
7	chr5:147695455-147695505	HPAEpiC	pulmonary alveolar:	n/a
8	chr5:147695455-147695505	NH-A	brain:	n/a
9	chr5:147695455-147695505	U87	brain:	n/a
10	chr5:147695455-147695505	NB4	blood:	n/a
11	chr5:147695455-147695505	A549	lung:	n/a
12	chr5:147695455-147695505	PrEC	prostate:	n/a
13	chr5:147695455-147695505	AG10803	skin:	n/a
14	chr5:147695455-147695505	ProgFib	skin:	n/a
15	chr5:147695455-147695505	HCPEpiC	choroid plexus:	n/a
16	chr5:147695455-147695505	HMEC	breast:	n/a
17	chr5:147695455-147695505	H1-hESC	embryonic stem cell:	embryo
18	chr5:147695455-147695505	HIPEpiC	eye:	n/a
19	chr5:147695455-147695505	MCF-7	breast:	n/a
20	chr5:147695455-147695505	LNCaP	prostate:	n/a
21	chr5:147695455-147695505	HRCEpiC	kidney:	n/a
22	chr5:147695455-147695505	GM19239	blood:	n/a
23	chr5:147695455-147695505	HNPCEpiC	eye:	n/a
24	chr5:147695455-147695505	CMK	blood:	n/a
25	chr5:147695455-147695505	Caco-2	colon:	n/a
26	chr5:147695455-147695505	HCT-116	colon:	n/a
27	chr5:147695455-147695505	AG09309	skin:	n/a
28	chr5:147695455-147695505	GM06990	blood:	n/a
29	chr5:147695455-147695505	ovcar-3	ovarian:	n/a
30	chr5:147695455-147695505	SK-N-SH_RA	brain:	n/a
31	chr5:147695455-147695505	GM12892	blood:	n/a
32	chr5:147695455-147695505	SKMC	muscle:	n/a
33	chr5:147695455-147695505	AG04449	skin:	fetal
34	chr5:147695455-147695505	Hela-S3	cervix:	n/a
35	chr5:147695455-147695505	HEK293	kidney:	embryo
36	chr5:147695455-147695505	PFSK-1	brain:	n/a
37	chr5:147695455-147695505	AG09319	gingival:	n/a
38	chr5:147695455-147695505	NHBE	bronchial:	n/a
39	chr5:147695455-147695505	BE2_C	brain:	n/a
40	chr5:147695455-147695505	SK-N-SH	brain:	n/a
41	chr5:147695455-147695505	PANC-1	pancreas:	n/a
42	chr5:147695455-147695505	HRPEpiC	eye:	n/a
43	chr5:147695455-147695505	NT2-D1	testis:	n/a
44	chr5:147695455-147695505	SK-N-MC	brain:	n/a
45	chr5:147695455-147695505	ECC-1	luminal epithelium:	n/a
46	chr5:147695455-147695505	HUVEC	blood vessel:	n/a
47	chr5:147695455-147695505	AoSMC	blood vessel:	n/a
48	chr5:147695455-147695505	Jurkat	blood:	n/a
49	chr5:147695455-147695505	MCF10A-Er-Src	breast:	n/a
50	chr5:147695455-147695505	RPTEC	kidney:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPINK7-1	chr5:147695202-147695485	ENSG00000254282.1

No data

Variant related genes	Relation type
ENSG00000268126	CpG island

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57349530	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58789597	1.00[AMR][1000 genomes]
rs59743971	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60374416	1.00[AMR][1000 genomes]
rs6860022	1.00[AMR][1000 genomes]
rs6878613	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6887886	1.00[AMR][1000 genomes]
rs73262428	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73262446	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73262474	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73262478	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73262490	1.00[AMR][1000 genomes]
rs73262496	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73262500	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73262502	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264508	1.00[AMR][1000 genomes]
rs73264541	1.00[AMR][1000 genomes]
rs73264549	1.00[AMR][1000 genomes]
rs73264589	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264591	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264599	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73266453	0.85[AFR][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	nsv883015	chr5:147404281-147751035	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv599945	chr5:147649181-147720487	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1801220	chr5:147694648-147705789	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147689000-147699600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:147693800-147699600	Weak transcription	Esophagus	oesophagus
3	chr5:147694200-147699600	Weak transcription	Left Ventricle	heart
4	chr5:147694600-147695800	Enhancers	Ovary	ovary
5	chr5:147695000-147696600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:147695000-147699600	Weak transcription	Right Atrium	heart

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