Variant report

Variant	rs1591369
Chromosome Location	chr6:119402542-119402543
allele	C/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	chr6:119402498-119402548	SKMC	muscle:	n/a
2	chr6:119402498-119402548	HL-60	blood:	n/a
3	chr6:119402498-119402548	SK-N-MC	brain:	n/a
4	chr6:119402498-119402548	GM12892	blood:	n/a
5	chr6:119402498-119402548	PANC-1	pancreas:	n/a
6	chr6:119402498-119402548	GM12891	blood:	n/a
7	chr6:119402498-119402548	HEEpiC	esophagus:	n/a
8	chr6:119402498-119402548	AG09309	skin:	n/a
9	chr6:119402498-119402548	ovcar-3	ovarian:	n/a
10	chr6:119402498-119402548	ProgFib	skin:	n/a
11	chr6:119402498-119402548	HCT-116	colon:	n/a
12	chr6:119402498-119402548	NB4	blood:	n/a
13	chr6:119402498-119402548	HCPEpiC	choroid plexus:	n/a
14	chr6:119402498-119402548	HUVEC	blood vessel:	n/a
15	chr6:119402498-119402548	Jurkat	blood:	n/a
16	chr6:119402498-119402548	H1-hESC	embryonic stem cell:	embryo
17	chr6:119402498-119402548	MCF-7	breast:	n/a
18	chr6:119402498-119402548	HIPEpiC	eye:	n/a
19	chr6:119402498-119402548	T-47D	breast:	n/a
20	chr6:119402498-119402548	LNCaP	prostate:	n/a
21	chr6:119402498-119402548	RPTEC	kidney:	n/a
22	chr6:119402498-119402548	K562	blood:	n/a
23	chr6:119402498-119402548	Hela-S3	cervix:	n/a
24	chr6:119402498-119402548	BJ	skin:	n/a
25	chr6:119402498-119402548	A549	lung:	n/a
26	chr6:119402498-119402548	GM19239	blood:	n/a
27	chr6:119402498-119402548	IMR90	lung:	fetal
28	chr6:119402498-119402548	MCF10A-Er-Src	breast:	n/a
29	chr6:119402498-119402548	NH-A	brain:	n/a
30	chr6:119402498-119402548	SAEC	small airway:	n/a
31	chr6:119402498-119402548	Hepatocyte	liver:	n/a
32	chr6:119402498-119402548	AG04450	lung:	fetal
33	chr6:119402498-119402548	NHBE	bronchial:	n/a
34	chr6:119402498-119402548	Caco-2	colon:	n/a
35	chr6:119402498-119402548	SK-N-SH_RA	brain:	n/a
36	chr6:119402498-119402548	AG04449	skin:	fetal
37	chr6:119402498-119402548	HRE	kidney:	n/a
38	chr6:119402498-119402548	HMEC	breast:	n/a
39	chr6:119402498-119402548	CMK	blood:	n/a
40	chr6:119402498-119402548	HepG2	liver:	n/a
41	chr6:119402498-119402548	PFSK-1	brain:	n/a
42	chr6:119402498-119402548	PrEC	prostate:	n/a
43	chr6:119402498-119402548	HRCEpiC	kidney:	n/a
44	chr6:119402498-119402548	BE2_C	brain:	n/a
45	chr6:119402498-119402548	HNPCEpiC	eye:	n/a
46	chr6:119402498-119402548	HEK293	kidney:	embryo
47	chr6:119402498-119402548	HCF	heart:	n/a
48	chr6:119402498-119402548	HRPEpiC	eye:	n/a
49	chr6:119402498-119402548	AoSMC	blood vessel:	n/a
50	chr6:119402498-119402548	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119253238..119258280-chr6:119398045..119402661,8	K562	blood:

No data

Variant related genes	Relation type
FAM184A	CpG island
ENSG00000111877	Chromatin interaction
ENSG00000253194	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10456919	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12189950	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12190491	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12190974	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12193093	0.93[ASN][1000 genomes]
rs12195153	0.84[EUR][1000 genomes]
rs12195334	0.93[ASN][1000 genomes]
rs12195400	0.93[ASN][1000 genomes]
rs12204929	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12214184	0.92[ASN][1000 genomes]
rs12214265	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1342793	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1418712	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1591368	0.93[ASN][1000 genomes]
rs2357022	0.84[EUR][1000 genomes]
rs55810806	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55919736	0.93[ASN][1000 genomes]
rs56347939	0.93[ASN][1000 genomes]
rs603770	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs706978	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs706979	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72953079	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72953080	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7745460	0.92[ASN][1000 genomes]
rs794250	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs794252	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs794253	0.84[EUR][1000 genomes]
rs794254	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs794255	0.81[ASN][1000 genomes]
rs797002	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs811584	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 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	chr6:119400600-119402800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:119402200-119403200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:119402400-119402600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin

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