Variant report

Variant	rs17080790
Chromosome Location	chr6:119375059-119375060
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: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	chr6:119375030-119375080	ProgFib	skin:	n/a
2	chr6:119375030-119375080	SK-N-SH_RA	brain:	n/a
3	chr6:119375030-119375080	HCT-116	colon:	n/a
4	chr6:119375030-119375080	ovcar-3	ovarian:	n/a
5	chr6:119375030-119375080	NT2-D1	testis:	n/a
6	chr6:119375030-119375080	AG10803	skin:	n/a
7	chr6:119375030-119375080	MCF-7	breast:	n/a
8	chr6:119375030-119375080	HAEpiC	amniotic membrane:	n/a
9	chr6:119375030-119375080	PrEC	prostate:	n/a
10	chr6:119375030-119375080	PANC-1	pancreas:	n/a
11	chr6:119375030-119375080	K562	blood:	n/a
12	chr6:119375030-119375080	SK-N-SH	brain:	n/a
13	chr6:119375030-119375080	HRCEpiC	kidney:	n/a
14	chr6:119375030-119375080	HCM	heart:	n/a
15	chr6:119375030-119375080	HepG2	liver:	n/a
16	chr6:119375030-119375080	ECC-1	luminal epithelium:	n/a
17	chr6:119375030-119375080	LNCaP	prostate:	n/a
18	chr6:119375030-119375080	Hela-S3	cervix:	n/a
19	chr6:119375030-119375080	HNPCEpiC	eye:	n/a
20	chr6:119375030-119375080	AG09309	skin:	n/a
21	chr6:119375030-119375080	AG04449	skin:	fetal
22	chr6:119375030-119375080	CMK	blood:	n/a
23	chr6:119375030-119375080	BE2_C	brain:	n/a
24	chr6:119375030-119375080	HPAEpiC	pulmonary alveolar:	n/a
25	chr6:119375030-119375080	T-47D	breast:	n/a
26	chr6:119375030-119375080	A549	lung:	n/a
27	chr6:119375030-119375080	GM12878	blood:	n/a
28	chr6:119375030-119375080	HMEC	breast:	n/a
29	chr6:119375030-119375080	NHDF-neo	bronchial:	n/a
30	chr6:119375030-119375080	HL-60	blood:	n/a
31	chr6:119375030-119375080	NB4	blood:	n/a
32	chr6:119375030-119375080	Hepatocyte	liver:	n/a
33	chr6:119375030-119375080	BJ	skin:	n/a
34	chr6:119375030-119375080	GM19239	blood:	n/a
35	chr6:119375030-119375080	HRE	kidney:	n/a
36	chr6:119375030-119375080	Caco-2	colon:	n/a
37	chr6:119375030-119375080	AG04450	lung:	fetal
38	chr6:119375030-119375080	HCF	heart:	n/a
39	chr6:119375030-119375080	IMR90	lung:	fetal
40	chr6:119375030-119375080	Jurkat	blood:	n/a
41	chr6:119375030-119375080	GM12892	blood:	n/a
42	chr6:119375030-119375080	GM06990	blood:	n/a
43	chr6:119375030-119375080	RPTEC	kidney:	n/a
44	chr6:119375030-119375080	H1-hESC	embryonic stem cell:	embryo
45	chr6:119375030-119375080	GM12891	blood:	n/a
46	chr6:119375030-119375080	AoSMC	blood vessel:	n/a
47	chr6:119375030-119375080	U87	brain:	n/a
48	chr6:119375030-119375080	AG09319	gingival:	n/a
49	chr6:119375030-119375080	HUVEC	blood vessel:	n/a
50	chr6:119375030-119375080	PFSK-1	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119374505..119375317-chr8:134874073..134874573,2	K562	blood:
2	chr6:119374401..119377359-chr6:119388791..119390597,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222649	CpG island
ENSG00000207982	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17080788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17080815	1.00[AMR][1000 genomes]
rs17080830	1.00[AMR][1000 genomes]
rs73520239	1.00[AMR][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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119373000-119375800	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr6:119373400-119375200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:119373400-119375800	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr6:119373600-119375200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:119373600-119375800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:119374800-119375400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:119375000-119377600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:119375000-119382000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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