Variant report

Variant	rs62106887
Chromosome Location	chr19:40340885-40340886
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:5)
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	chr19:40340835-40340885	LNCaP	prostate:	n/a
2	chr19:40340835-40340885	CMK	blood:	n/a
3	chr19:40340835-40340885	HRCEpiC	kidney:	n/a
4	chr19:40340835-40340885	MCF10A-Er-Src	breast:	n/a
5	chr19:40340835-40340885	HL-60	blood:	n/a
6	chr19:40340835-40340885	AG09319	gingival:	n/a
7	chr19:40340835-40340885	GM19239	blood:	n/a
8	chr19:40340835-40340885	GM06990	blood:	n/a
9	chr19:40340835-40340885	HCT-116	colon:	n/a
10	chr19:40340835-40340885	MCF-7	breast:	n/a
11	chr19:40340835-40340885	HCPEpiC	choroid plexus:	n/a
12	chr19:40340835-40340885	PANC-1	pancreas:	n/a
13	chr19:40340835-40340885	GM12891	blood:	n/a
14	chr19:40340835-40340885	ECC-1	luminal epithelium:	n/a
15	chr19:40340835-40340885	T-47D	breast:	n/a
16	chr19:40340835-40340885	NHDF-neo	bronchial:	n/a
17	chr19:40340835-40340885	HAEpiC	amniotic membrane:	n/a
18	chr19:40340835-40340885	SK-N-SH_RA	brain:	n/a
19	chr19:40340835-40340885	GM12892	blood:	n/a
20	chr19:40340835-40340885	BJ	skin:	n/a
21	chr19:40340835-40340885	HEK293	kidney:	embryo
22	chr19:40340835-40340885	HIPEpiC	eye:	n/a
23	chr19:40340835-40340885	NB4	blood:	n/a
24	chr19:40340835-40340885	SK-N-MC	brain:	n/a
25	chr19:40340835-40340885	HRPEpiC	eye:	n/a
26	chr19:40340835-40340885	PrEC	prostate:	n/a
27	chr19:40340835-40340885	K562	blood:	n/a
28	chr19:40340835-40340885	AG10803	skin:	n/a
29	chr19:40340835-40340885	HRE	kidney:	n/a
30	chr19:40340835-40340885	AG09309	skin:	n/a
31	chr19:40340835-40340885	SKMC	muscle:	n/a
32	chr19:40340835-40340885	Hela-S3	cervix:	n/a
33	chr19:40340835-40340885	HPAEpiC	pulmonary alveolar:	n/a
34	chr19:40340835-40340885	HUVEC	blood vessel:	n/a
35	chr19:40340835-40340885	U87	brain:	n/a
36	chr19:40340835-40340885	GM12878	blood:	n/a
37	chr19:40340835-40340885	H1-hESC	embryonic stem cell:	embryo
38	chr19:40340835-40340885	BE2_C	brain:	n/a
39	chr19:40340835-40340885	SAEC	small airway:	n/a
40	chr19:40340835-40340885	HCF	heart:	n/a
41	chr19:40340835-40340885	ovcar-3	ovarian:	n/a
42	chr19:40340835-40340885	Jurkat	blood:	n/a
43	chr19:40340835-40340885	A549	lung:	n/a
44	chr19:40340835-40340885	HNPCEpiC	eye:	n/a
45	chr19:40340835-40340885	AG04449	skin:	fetal
46	chr19:40340835-40340885	NT2-D1	testis:	n/a
47	chr19:40340835-40340885	RPTEC	kidney:	n/a
48	chr19:40340835-40340885	ProgFib	skin:	n/a
49	chr19:40340835-40340885	AG04450	lung:	fetal
50	chr19:40340835-40340885	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:40335929..40339892-chr19:40340090..40345342,6	K562	blood:
2	chr19:40337132..40339013-chr19:40340235..40342919,2	MCF-7	breast:
3	chr19:40340776..40343743-chr19:40345587..40347160,2	K562	blood:
4	chr19:40338036..40340893-chr19:40348527..40351769,3	MCF-7	breast:
5	chr19:40335743..40338422-chr19:40339936..40343829,5	MCF-7	breast:

No data

Variant related genes	Relation type
FBL	CpG island
ENSG00000105202	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1001974	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10404165	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4802061	0.89[ASN][1000 genomes]
rs61422656	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62106888	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7507534	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv911696	chr19:40310497-40344648	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv2483	chr19:40340641-40435505	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 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	chr19:40338000-40341400	Weak transcription	Hela-S3	cervix
2	chr19:40338400-40341400	Weak transcription	A549	lung
3	chr19:40339800-40341600	Weak transcription	K562	blood

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