Variant report

Variant	rs73045840
Chromosome Location	chr19:35720296-35720297
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: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	chr19:35720295-35720345	HRCEpiC	kidney:	n/a
2	chr19:35720295-35720345	AG10803	skin:	n/a
3	chr19:35720295-35720345	SAEC	small airway:	n/a
4	chr19:35720295-35720345	GM12891	blood:	n/a
5	chr19:35720295-35720345	PANC-1	pancreas:	n/a
6	chr19:35720295-35720345	LNCaP	prostate:	n/a
7	chr19:35720295-35720345	H1-hESC	embryonic stem cell:	embryo
8	chr19:35720295-35720345	BJ	skin:	n/a
9	chr19:35720295-35720345	GM19239	blood:	n/a
10	chr19:35720295-35720345	NT2-D1	testis:	n/a
11	chr19:35720295-35720345	U87	brain:	n/a
12	chr19:35720295-35720345	SK-N-MC	brain:	n/a
13	chr19:35720295-35720345	HRPEpiC	eye:	n/a
14	chr19:35720295-35720345	T-47D	breast:	n/a
15	chr19:35720295-35720345	HCM	heart:	n/a
16	chr19:35720295-35720345	Jurkat	blood:	n/a
17	chr19:35720295-35720345	NHBE	bronchial:	n/a
18	chr19:35720295-35720345	NHDF-neo	bronchial:	n/a
19	chr19:35720295-35720345	SKMC	muscle:	n/a
20	chr19:35720295-35720345	AG04450	lung:	fetal
21	chr19:35720295-35720345	CMK	blood:	n/a
22	chr19:35720295-35720345	GM12892	blood:	n/a
23	chr19:35720295-35720345	AG09309	skin:	n/a
24	chr19:35720295-35720345	HCPEpiC	choroid plexus:	n/a
25	chr19:35720295-35720345	MCF-7	breast:	n/a
26	chr19:35720295-35720345	SK-N-SH	brain:	n/a
27	chr19:35720295-35720345	HNPCEpiC	eye:	n/a
28	chr19:35720295-35720345	HRE	kidney:	n/a
29	chr19:35720295-35720345	AG04449	skin:	fetal
30	chr19:35720295-35720345	NH-A	brain:	n/a
31	chr19:35720295-35720345	GM06990	blood:	n/a
32	chr19:35720295-35720345	RPTEC	kidney:	n/a
33	chr19:35720295-35720345	PrEC	prostate:	n/a
34	chr19:35720295-35720345	PFSK-1	brain:	n/a
35	chr19:35720295-35720345	HIPEpiC	eye:	n/a
36	chr19:35720295-35720345	ECC-1	luminal epithelium:	n/a
37	chr19:35720295-35720345	Hepatocyte	liver:	n/a
38	chr19:35720295-35720345	AoSMC	blood vessel:	n/a
39	chr19:35720295-35720345	ProgFib	skin:	n/a
40	chr19:35720295-35720345	SK-N-SH_RA	brain:	n/a
41	chr19:35720295-35720345	NB4	blood:	n/a
42	chr19:35720295-35720345	K562	blood:	n/a
43	chr19:35720295-35720345	HEEpiC	esophagus:	n/a
44	chr19:35720295-35720345	Hela-S3	cervix:	n/a
45	chr19:35720295-35720345	Caco-2	colon:	n/a
46	chr19:35720295-35720345	AG09319	gingival:	n/a
47	chr19:35720295-35720345	ovcar-3	ovarian:	n/a
48	chr19:35720295-35720345	HepG2	liver:	n/a
49	chr19:35720295-35720345	HAEpiC	amniotic membrane:	n/a
50	chr19:35720295-35720345	HUVEC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35719219..35721551-chr19:35722834..35727069,3	K562	blood:
2	chr19:35718678..35720457-chr19:35738411..35740780,2	K562	blood:

No data

Variant related genes	Relation type
FAM187B	CpG island
ENSG00000262497	Chromatin interaction
ENSG00000105699	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12459658	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17173026	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2005927	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4805116	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4806114	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4806115	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4806121	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4806125	0.87[ASN][1000 genomes]
rs55745204	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55877896	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56002756	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73029949	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73045852	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73045860	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7508022	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv1066553	chr19:35698638-35749563	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	esv2763203	chr19:35700047-35738400	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv510765	chr19:35708226-35890668	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	esv2758497	chr19:35711078-35887113	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
8	esv2758758	chr19:35711078-35887113	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
9	nsv9710	chr19:35720181-35724894	Weak transcription Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 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	chr19:35716400-35724400	Weak transcription	Lung	lung
2	chr19:35717000-35722800	Weak transcription	Spleen	Spleen
3	chr19:35719600-35720600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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