Variant report

Variant	rs55810243
Chromosome Location	chr4:8583959-8583960
allele	G/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	chr4:8583937-8583987	SKMC	muscle:	n/a
2	chr4:8583937-8583987	HPAEpiC	pulmonary alveolar:	n/a
3	chr4:8583937-8583987	AoSMC	blood vessel:	n/a
4	chr4:8583937-8583987	HL-60	blood:	n/a
5	chr4:8583937-8583987	AG10803	skin:	n/a
6	chr4:8583937-8583987	HCPEpiC	choroid plexus:	n/a
7	chr4:8583937-8583987	ovcar-3	ovarian:	n/a
8	chr4:8583937-8583987	ProgFib	skin:	n/a
9	chr4:8583937-8583987	MCF10A-Er-Src	breast:	n/a
10	chr4:8583937-8583987	HCM	heart:	n/a
11	chr4:8583937-8583987	AG04449	skin:	fetal
12	chr4:8583937-8583987	Hepatocyte	liver:	n/a
13	chr4:8583937-8583987	SK-N-SH	brain:	n/a
14	chr4:8583937-8583987	HRPEpiC	eye:	n/a
15	chr4:8583937-8583987	HIPEpiC	eye:	n/a
16	chr4:8583937-8583987	GM12878	blood:	n/a
17	chr4:8583937-8583987	AG09309	skin:	n/a
18	chr4:8583937-8583987	BE2_C	brain:	n/a
19	chr4:8583937-8583987	NH-A	brain:	n/a
20	chr4:8583937-8583987	GM12892	blood:	n/a
21	chr4:8583937-8583987	GM12891	blood:	n/a
22	chr4:8583937-8583987	K562	blood:	n/a
23	chr4:8583937-8583987	ECC-1	luminal epithelium:	n/a
24	chr4:8583937-8583987	AG04450	lung:	fetal
25	chr4:8583937-8583987	HMEC	breast:	n/a
26	chr4:8583937-8583987	LNCaP	prostate:	n/a
27	chr4:8583937-8583987	HepG2	liver:	n/a
28	chr4:8583937-8583987	HCT-116	colon:	n/a
29	chr4:8583937-8583987	HRCEpiC	kidney:	n/a
30	chr4:8583937-8583987	NHDF-neo	bronchial:	n/a
31	chr4:8583937-8583987	PANC-1	pancreas:	n/a
32	chr4:8583937-8583987	AG09319	gingival:	n/a
33	chr4:8583937-8583987	MCF-7	breast:	n/a
34	chr4:8583937-8583987	SAEC	small airway:	n/a
35	chr4:8583937-8583987	HAEpiC	amniotic membrane:	n/a
36	chr4:8583937-8583987	GM19239	blood:	n/a
37	chr4:8583937-8583987	HRE	kidney:	n/a
38	chr4:8583937-8583987	HEK293	kidney:	embryo
39	chr4:8583937-8583987	Caco-2	colon:	n/a
40	chr4:8583937-8583987	PrEC	prostate:	n/a
41	chr4:8583937-8583987	HCF	heart:	n/a
42	chr4:8583937-8583987	Hela-S3	cervix:	n/a
43	chr4:8583937-8583987	NB4	blood:	n/a
44	chr4:8583937-8583987	A549	lung:	n/a
45	chr4:8583937-8583987	GM06990	blood:	n/a
46	chr4:8583937-8583987	U87	brain:	n/a
47	chr4:8583937-8583987	T-47D	breast:	n/a
48	chr4:8583937-8583987	RPTEC	kidney:	n/a
49	chr4:8583937-8583987	SK-N-SH_RA	brain:	n/a
50	chr4:8583937-8583987	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8582157..8584012-chr4:8592733..8594974,2	MCF-7	breast:

No data

Variant related genes	Relation type
GPR78	CpG island
ENSG00000109625	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17844775	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17844776	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17844777	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17844778	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843979	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857501	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6857510	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv878612	chr4:8534283-8618916	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1832730	chr4:8541086-9514568	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
5	esv1843578	chr4:8541086-9514568	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
6	nsv878613	chr4:8554894-8618916	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv878614	chr4:8554894-8669619	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv878615	chr4:8566758-8625245	Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv878616	chr4:8566758-8669619	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv878617	chr4:8566758-9371116	ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv1014219	chr4:8578779-8724531	Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv878618	chr4:8579758-8641696	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv878619	chr4:8579758-8669619	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	esv3487948	chr4:8581052-8584350	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	esv3487949	chr4:8581052-8584350	Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	esv3327663	chr4:8582302-8584800	Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr4:8573400-8609400	Weak transcription	Right Atrium	heart
2	chr4:8583000-8584000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:8583400-8584000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:8583400-8584000	Transcr. at gene 5' and 3'	Placenta	Placenta
5	chr4:8583400-8584600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:8583600-8584200	Weak transcription	Esophagus	oesophagus
7	chr4:8583600-8584600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:8583600-8588800	Weak transcription	Spleen	Spleen

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