Variant report

Variant	rs1334927
Chromosome Location	chr6:119395208-119395209
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr6:119395007-119395355	K562	blood:	n/a	n/a
2	ZNF263	chr6:119394439-119395445	HEK293-T-REx	kidney:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:119395189-119395239	NHBE	bronchial:	n/a
2	chr6:119395189-119395239	HL-60	blood:	n/a
3	chr6:119395189-119395239	A549	lung:	n/a
4	chr6:119395189-119395239	Hepatocyte	liver:	n/a
5	chr6:119395189-119395239	T-47D	breast:	n/a
6	chr6:119395189-119395239	HEK293	kidney:	embryo
7	chr6:119395189-119395239	HRCEpiC	kidney:	n/a
8	chr6:119395189-119395239	MCF-7	breast:	n/a
9	chr6:119395189-119395239	HUVEC	blood vessel:	n/a
10	chr6:119395189-119395239	SK-N-SH_RA	brain:	n/a
11	chr6:119395189-119395239	HPAEpiC	pulmonary alveolar:	n/a
12	chr6:119395189-119395239	Caco-2	colon:	n/a
13	chr6:119395189-119395239	NB4	blood:	n/a
14	chr6:119395189-119395239	SK-N-MC	brain:	n/a
15	chr6:119395189-119395239	AG04450	lung:	fetal
16	chr6:119395189-119395239	GM12892	blood:	n/a
17	chr6:119395189-119395239	PFSK-1	brain:	n/a
18	chr6:119395189-119395239	PrEC	prostate:	n/a
19	chr6:119395189-119395239	LNCaP	prostate:	n/a
20	chr6:119395189-119395239	HEEpiC	esophagus:	n/a
21	chr6:119395189-119395239	SK-N-SH	brain:	n/a
22	chr6:119395189-119395239	HepG2	liver:	n/a
23	chr6:119395189-119395239	GM12891	blood:	n/a
24	chr6:119395189-119395239	AG09319	gingival:	n/a
25	chr6:119395189-119395239	HCPEpiC	choroid plexus:	n/a
26	chr6:119395189-119395239	CMK	blood:	n/a
27	chr6:119395189-119395239	AG09309	skin:	n/a
28	chr6:119395189-119395239	NT2-D1	testis:	n/a
29	chr6:119395189-119395239	K562	blood:	n/a
30	chr6:119395189-119395239	SKMC	muscle:	n/a
31	chr6:119395189-119395239	HRPEpiC	eye:	n/a
32	chr6:119395189-119395239	IMR90	lung:	fetal
33	chr6:119395189-119395239	BE2_C	brain:	n/a
34	chr6:119395189-119395239	AoSMC	blood vessel:	n/a
35	chr6:119395189-119395239	ProgFib	skin:	n/a
36	chr6:119395189-119395239	NHDF-neo	bronchial:	n/a
37	chr6:119395189-119395239	HIPEpiC	eye:	n/a
38	chr6:119395189-119395239	U87	brain:	n/a
39	chr6:119395189-119395239	RPTEC	kidney:	n/a
40	chr6:119395189-119395239	GM06990	blood:	n/a
41	chr6:119395189-119395239	SAEC	small airway:	n/a
42	chr6:119395189-119395239	HCM	heart:	n/a
43	chr6:119395189-119395239	GM12878	blood:	n/a
44	chr6:119395189-119395239	HCF	heart:	n/a
45	chr6:119395189-119395239	MCF10A-Er-Src	breast:	n/a
46	chr6:119395189-119395239	HMEC	breast:	n/a
47	chr6:119395189-119395239	Jurkat	blood:	n/a
48	chr6:119395189-119395239	HAEpiC	amniotic membrane:	n/a
49	chr6:119395189-119395239	BJ	skin:	n/a
50	chr6:119395189-119395239	NH-A	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119253156..119256806-chr6:119394976..119399977,7	K562	blood:
2	chr6:119282607..119285041-chr6:119393256..119395593,2	K562	blood:

No data

Variant related genes	Relation type
MIR548B	TF binding region
MIR548B	CpG island
ENSG00000253194	Chromatin interaction
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58340913	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73531378	1.00[EUR][1000 genomes]
rs73531393	0.93[EUR][1000 genomes]
rs73531398	0.93[EUR][1000 genomes]
rs73533328	0.93[EUR][1000 genomes]
rs9489586	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9489587	1.00[EUR][1000 genomes]
rs9489589	0.93[EUR][1000 genomes]
rs9885701	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9885891	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv528632	chr6:119380885-119397860	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119385000-119397200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:119393200-119397400	Weak transcription	HepG2	liver
3	chr6:119393600-119398200	Weak transcription	Fetal Intestine Large	intestine
4	chr6:119393600-119398400	Weak transcription	Fetal Intestine Small	intestine
5	chr6:119394200-119395400	Enhancers	K562	blood
6	chr6:119394400-119396800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:119394400-119397400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:119394600-119395400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:119394600-119397000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:119394600-119397200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr6:119394800-119396200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:119395000-119396000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr6:119395000-119397200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr6:119395000-119399000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:119395200-119396000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links