Variant report

Variant	rs8107030
Chromosome Location	chr19:39736719-39736720
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39736699-39736749	HCM	heart:	n/a
2	chr19:39736690-39736740	SK-N-SH_RA	brain:	n/a
3	chr19:39736690-39736740	Hepatocyte	liver:	n/a
4	chr19:39736690-39736740	HRE	kidney:	n/a
5	chr19:39736699-39736749	GM12878	blood:	n/a
6	chr19:39736690-39736740	HMEC	breast:	n/a
7	chr19:39736699-39736749	NHDF-neo	bronchial:	n/a
8	chr19:39736690-39736740	BJ	skin:	n/a
9	chr19:39736699-39736749	RPTEC	kidney:	n/a
10	chr19:39736699-39736749	HRCEpiC	kidney:	n/a
11	chr19:39736699-39736749	MCF-7	breast:	n/a
12	chr19:39736690-39736740	SKMC	muscle:	n/a
13	chr19:39736699-39736749	Hela-S3	cervix:	n/a
14	chr19:39736690-39736740	AG09309	skin:	n/a
15	chr19:39736690-39736740	T-47D	breast:	n/a
16	chr19:39736699-39736749	AG10803	skin:	n/a
17	chr19:39736690-39736740	RPTEC	kidney:	n/a
18	chr19:39736690-39736740	HCPEpiC	choroid plexus:	n/a
19	chr19:39736690-39736740	LNCaP	prostate:	n/a
20	chr19:39736699-39736749	HEEpiC	esophagus:	n/a
21	chr19:39736690-39736740	CMK	blood:	n/a
22	chr19:39736699-39736749	HRPEpiC	eye:	n/a
23	chr19:39736699-39736749	U87	brain:	n/a
24	chr19:39736690-39736740	H1-hESC	embryonic stem cell:	embryo
25	chr19:39736699-39736749	GM06990	blood:	n/a
26	chr19:39736699-39736749	BJ	skin:	n/a
27	chr19:39736690-39736740	ovcar-3	ovarian:	n/a
28	chr19:39736699-39736749	AG04450	lung:	fetal
29	chr19:39736699-39736749	NHBE	bronchial:	n/a
30	chr19:39736690-39736740	HepG2	liver:	n/a
31	chr19:39736690-39736740	NHDF-neo	bronchial:	n/a
32	chr19:39736699-39736749	HEK293	kidney:	embryo
33	chr19:39736699-39736749	BE2_C	brain:	n/a
34	chr19:39736690-39736740	HPAEpiC	pulmonary alveolar:	n/a
35	chr19:39736699-39736749	ovcar-3	ovarian:	n/a
36	chr19:39736690-39736740	ECC-1	luminal epithelium:	n/a
37	chr19:39736690-39736740	SK-N-SH	brain:	n/a
38	chr19:39736690-39736740	PANC-1	pancreas:	n/a
39	chr19:39736699-39736749	AG04449	skin:	fetal
40	chr19:39736699-39736749	PANC-1	pancreas:	n/a
41	chr19:39736699-39736749	HIPEpiC	eye:	n/a
42	chr19:39736699-39736749	GM19239	blood:	n/a
43	chr19:39736699-39736749	GM12892	blood:	n/a
44	chr19:39736699-39736749	HUVEC	blood vessel:	n/a
45	chr19:39736690-39736740	HCF	heart:	n/a
46	chr19:39736690-39736740	AG10803	skin:	n/a
47	chr19:39736690-39736740	HNPCEpiC	eye:	n/a
48	chr19:39736699-39736749	Jurkat	blood:	n/a
49	chr19:39736690-39736740	IMR90	lung:	fetal
50	chr19:39736699-39736749	A549	lung:	n/a

No data

Variant related genes	Relation type
IFNL3	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11881222	0.92[ASN][1000 genomes]
rs11882871	0.97[ASN][1000 genomes]
rs12971396	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12979860	0.85[ASN][1000 genomes]
rs12980275	0.85[ASN][1000 genomes]
rs12982533	0.81[ASN][1000 genomes]
rs12983038	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28416813	0.84[ASN][1000 genomes]
rs4803217	0.95[ASN][1000 genomes]
rs4803221	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4803222	0.90[ASN][1000 genomes]
rs66531907	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68018539	0.97[ASN][1000 genomes]
rs7248668	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8099917	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8105086	0.95[ASN][1000 genomes]
rs8105790	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8109886	0.87[ASN][1000 genomes]
rs8109889	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8113007	0.95[ASN][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	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911678	chr19:39710903-39763765	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1796501	chr19:39723520-39740868	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
6	nsv963046	chr19:39735570-39739516	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39729000-39738000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr19:39731600-39737600	Weak transcription	Right Atrium	heart
3	chr19:39732000-39737400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:39732200-39737600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr19:39732800-39737600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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