Variant report

Variant	rs504389
Chromosome Location	chr19:35720776-35720777
allele	G/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:1)
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	chr19:35720739-35720789	HCF	heart:	n/a
2	chr19:35720739-35720789	AG04449	skin:	fetal
3	chr19:35720739-35720789	CMK	blood:	n/a
4	chr19:35720739-35720789	ECC-1	luminal epithelium:	n/a
5	chr19:35720739-35720789	SK-N-MC	brain:	n/a
6	chr19:35720739-35720789	SKMC	muscle:	n/a
7	chr19:35720739-35720789	T-47D	breast:	n/a
8	chr19:35720739-35720789	HAEpiC	amniotic membrane:	n/a
9	chr19:35720739-35720789	HRCEpiC	kidney:	n/a
10	chr19:35720739-35720789	BJ	skin:	n/a
11	chr19:35720739-35720789	HEK293	kidney:	embryo
12	chr19:35720739-35720789	H1-hESC	embryonic stem cell:	embryo
13	chr19:35720739-35720789	NHDF-neo	bronchial:	n/a
14	chr19:35720739-35720789	NT2-D1	testis:	n/a
15	chr19:35720739-35720789	HMEC	breast:	n/a
16	chr19:35720739-35720789	ovcar-3	ovarian:	n/a
17	chr19:35720739-35720789	PANC-1	pancreas:	n/a
18	chr19:35720739-35720789	GM19239	blood:	n/a
19	chr19:35720739-35720789	HCT-116	colon:	n/a
20	chr19:35720739-35720789	NHBE	bronchial:	n/a
21	chr19:35720739-35720789	GM06990	blood:	n/a
22	chr19:35720739-35720789	GM12891	blood:	n/a
23	chr19:35720739-35720789	MCF-7	breast:	n/a
24	chr19:35720739-35720789	AG09319	gingival:	n/a
25	chr19:35720739-35720789	BE2_C	brain:	n/a
26	chr19:35720739-35720789	SAEC	small airway:	n/a
27	chr19:35720739-35720789	PrEC	prostate:	n/a
28	chr19:35720739-35720789	AoSMC	blood vessel:	n/a
29	chr19:35720739-35720789	NH-A	brain:	n/a
30	chr19:35720739-35720789	HRE	kidney:	n/a
31	chr19:35720739-35720789	HRPEpiC	eye:	n/a
32	chr19:35720739-35720789	Hela-S3	cervix:	n/a
33	chr19:35720739-35720789	PFSK-1	brain:	n/a
34	chr19:35720739-35720789	Hepatocyte	liver:	n/a
35	chr19:35720739-35720789	HCPEpiC	choroid plexus:	n/a
36	chr19:35720739-35720789	ProgFib	skin:	n/a
37	chr19:35720739-35720789	HNPCEpiC	eye:	n/a
38	chr19:35720739-35720789	AG04450	lung:	fetal
39	chr19:35720739-35720789	A549	lung:	n/a
40	chr19:35720739-35720789	HUVEC	blood vessel:	n/a
41	chr19:35720739-35720789	Jurkat	blood:	n/a
42	chr19:35720739-35720789	HIPEpiC	eye:	n/a
43	chr19:35720739-35720789	AG10803	skin:	n/a
44	chr19:35720739-35720789	HCM	heart:	n/a
45	chr19:35720739-35720789	SK-N-SH_RA	brain:	n/a
46	chr19:35720739-35720789	HepG2	liver:	n/a
47	chr19:35720739-35720789	HEEpiC	esophagus:	n/a
48	chr19:35720739-35720789	GM12892	blood:	n/a
49	chr19:35720739-35720789	LNCaP	prostate:	n/a
50	chr19:35720739-35720789	GM12878	blood:	n/a

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

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

No data

Variant related genes	Relation type
FAM187B	CpG island
ENSG00000262497	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11671613	0.91[CEU][hapmap]
rs12972214	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2519959	0.85[EUR][1000 genomes]
rs477681	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs507251	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs541169	0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs542977	0.82[CHB][hapmap]
rs565791	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[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	chr19:35720600-35720800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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