Variant report

Variant	rs66691853
Chromosome Location	chr4:187813486-187813487
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:0)
LncRNA
region (count:3)
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	chr4:187813459-187813509	RPTEC	kidney:	n/a
2	chr4:187813459-187813509	PrEC	prostate:	n/a
3	chr4:187813459-187813509	AG04449	skin:	fetal
4	chr4:187813459-187813509	HL-60	blood:	n/a
5	chr4:187813459-187813509	NHDF-neo	bronchial:	n/a
6	chr4:187813459-187813509	MCF10A-Er-Src	breast:	n/a
7	chr4:187813459-187813509	BJ	skin:	n/a
8	chr4:187813459-187813509	CMK	blood:	n/a
9	chr4:187813459-187813509	T-47D	breast:	n/a
10	chr4:187813459-187813509	HCPEpiC	choroid plexus:	n/a
11	chr4:187813459-187813509	HRPEpiC	eye:	n/a
12	chr4:187813459-187813509	ovcar-3	ovarian:	n/a
13	chr4:187813459-187813509	AG10803	skin:	n/a
14	chr4:187813459-187813509	HCT-116	colon:	n/a
15	chr4:187813459-187813509	GM12891	blood:	n/a
16	chr4:187813459-187813509	HNPCEpiC	eye:	n/a
17	chr4:187813459-187813509	NT2-D1	testis:	n/a
18	chr4:187813459-187813509	HAEpiC	amniotic membrane:	n/a
19	chr4:187813459-187813509	SK-N-SH_RA	brain:	n/a
20	chr4:187813459-187813509	GM12878	blood:	n/a
21	chr4:187813459-187813509	HPAEpiC	pulmonary alveolar:	n/a
22	chr4:187813459-187813509	SKMC	muscle:	n/a
23	chr4:187813459-187813509	HUVEC	blood vessel:	n/a
24	chr4:187813459-187813509	HEEpiC	esophagus:	n/a
25	chr4:187813459-187813509	HCF	heart:	n/a
26	chr4:187813459-187813509	ECC-1	luminal epithelium:	n/a
27	chr4:187813459-187813509	NHBE	bronchial:	n/a
28	chr4:187813459-187813509	NH-A	brain:	n/a
29	chr4:187813459-187813509	NB4	blood:	n/a
30	chr4:187813459-187813509	AG04450	lung:	fetal
31	chr4:187813459-187813509	AG09319	gingival:	n/a
32	chr4:187813459-187813509	SK-N-SH	brain:	n/a
33	chr4:187813459-187813509	SK-N-MC	brain:	n/a
34	chr4:187813459-187813509	BE2_C	brain:	n/a
35	chr4:187813459-187813509	ProgFib	skin:	n/a
36	chr4:187813459-187813509	HMEC	breast:	n/a
37	chr4:187813459-187813509	HepG2	liver:	n/a
38	chr4:187813459-187813509	A549	lung:	n/a
39	chr4:187813459-187813509	GM12892	blood:	n/a
40	chr4:187813459-187813509	SAEC	small airway:	n/a
41	chr4:187813459-187813509	GM06990	blood:	n/a
42	chr4:187813459-187813509	HRCEpiC	kidney:	n/a
43	chr4:187813459-187813509	AoSMC	blood vessel:	n/a
44	chr4:187813459-187813509	PANC-1	pancreas:	n/a
45	chr4:187813459-187813509	Hepatocyte	liver:	n/a
46	chr4:187813459-187813509	K562	blood:	n/a
47	chr4:187813459-187813509	PFSK-1	brain:	n/a
48	chr4:187813459-187813509	MCF-7	breast:	n/a
49	chr4:187813459-187813509	HEK293	kidney:	embryo
50	chr4:187813459-187813509	IMR90	lung:	fetal

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-F11-2	chr4:187813425-187813520	ENSG00000250829
2	lnc-F11-2	chr4:187812060-187814139	NONHSAT099676
3	lnc-F11-2	chr4:187813425-187813520	ENSG00000250829.2

No data

Variant related genes	Relation type
ENSG00000272218	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs28558940	0.81[EUR][1000 genomes]
rs35564230	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9990736	0.80[EUR][1000 genomes]
rs9990859	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1031603	chr4:187636716-188020741	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv880401	chr4:187668795-188047143	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv1015893	chr4:187768295-188338413	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv537441	chr4:187768295-188338413	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv525720	chr4:187792665-188426129	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv949342	chr4:187812637-188210592	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187808200-187821400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:187811200-187821400	Weak transcription	K562	blood
3	chr4:187811600-187816200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:187813200-187821200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:187813400-187813600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:187813400-187813600	Enhancers	Pancreas	Pancrea

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