Variant report

Variant	rs4273712
Chromosome Location	chr6:126964510-126964511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:126964449-126964863	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:126964499-126964549	GM19239	blood:	n/a
2	chr6:126964499-126964549	H1-hESC	embryonic stem cell:	embryo
3	chr6:126964499-126964549	HAEpiC	amniotic membrane:	n/a
4	chr6:126964499-126964549	Hepatocyte	liver:	n/a
5	chr6:126964499-126964549	HCM	heart:	n/a
6	chr6:126964499-126964549	AG04450	lung:	fetal
7	chr6:126964499-126964549	A549	lung:	n/a
8	chr6:126964499-126964549	HIPEpiC	eye:	n/a
9	chr6:126964499-126964549	NB4	blood:	n/a
10	chr6:126964499-126964549	K562	blood:	n/a
11	chr6:126964499-126964549	ProgFib	skin:	n/a
12	chr6:126964499-126964549	AG10803	skin:	n/a
13	chr6:126964499-126964549	PFSK-1	brain:	n/a
14	chr6:126964499-126964549	ECC-1	luminal epithelium:	n/a
15	chr6:126964499-126964549	HepG2	liver:	n/a
16	chr6:126964499-126964549	SAEC	small airway:	n/a
17	chr6:126964499-126964549	HNPCEpiC	eye:	n/a
18	chr6:126964499-126964549	HCT-116	colon:	n/a
19	chr6:126964499-126964549	BJ	skin:	n/a
20	chr6:126964499-126964549	HRCEpiC	kidney:	n/a
21	chr6:126964499-126964549	IMR90	lung:	fetal
22	chr6:126964499-126964549	HMEC	breast:	n/a
23	chr6:126964499-126964549	HPAEpiC	pulmonary alveolar:	n/a
24	chr6:126964499-126964549	ovcar-3	ovarian:	n/a
25	chr6:126964499-126964549	Jurkat	blood:	n/a
26	chr6:126964499-126964549	HEEpiC	esophagus:	n/a
27	chr6:126964499-126964549	AG09309	skin:	n/a
28	chr6:126964499-126964549	LNCaP	prostate:	n/a
29	chr6:126964499-126964549	NT2-D1	testis:	n/a
30	chr6:126964499-126964549	NH-A	brain:	n/a
31	chr6:126964499-126964549	GM12891	blood:	n/a
32	chr6:126964499-126964549	NHBE	bronchial:	n/a
33	chr6:126964499-126964549	NHDF-neo	bronchial:	n/a
34	chr6:126964499-126964549	PrEC	prostate:	n/a
35	chr6:126964499-126964549	MCF10A-Er-Src	breast:	n/a
36	chr6:126964499-126964549	AoSMC	blood vessel:	n/a
37	chr6:126964499-126964549	HL-60	blood:	n/a
38	chr6:126964499-126964549	HRE	kidney:	n/a
39	chr6:126964499-126964549	SK-N-SH	brain:	n/a
40	chr6:126964499-126964549	AG09319	gingival:	n/a
41	chr6:126964499-126964549	HCPEpiC	choroid plexus:	n/a
42	chr6:126964499-126964549	SK-N-MC	brain:	n/a
43	chr6:126964499-126964549	Hela-S3	cervix:	n/a
44	chr6:126964499-126964549	PANC-1	pancreas:	n/a
45	chr6:126964499-126964549	T-47D	breast:	n/a
46	chr6:126964499-126964549	SKMC	muscle:	n/a
47	chr6:126964499-126964549	GM12892	blood:	n/a
48	chr6:126964499-126964549	GM12878	blood:	n/a
49	chr6:126964499-126964549	HRPEpiC	eye:	n/a
50	chr6:126964499-126964549	CMK	blood:	n/a

No data

Variant related genes	Relation type
PRELID1P1	TF binding region
PRELID1P1	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs853974	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021636	chr6:126792916-127022489	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1026498	chr6:126812609-127397240	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1024206	chr6:126873187-127475713	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv538438	chr6:126873187-127475713	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830797	chr6:126923875-127100956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv886637	chr6:126927717-126985351	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv970163	chr6:126963994-126967239	Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Intracranial volume	22504418	GWAS catalog
Type 2 diabetes	24509480	GWAS catalog

Chromatin state (count:0 , 50 per page) page:

No data

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