Variant report

Variant	rs3729856
Chromosome Location	chr8:11614575-11614576
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZMIZ1	chr8:11614236-11614578	K562	blood:	n/a	n/a
2	HMGN3	chr8:11614282-11614826	K562	blood:	n/a	chr8:11614304-11614311
3	CEBPD	chr8:11614117-11614586	K562	blood:	n/a	n/a
4	GATA1	chr8:11613661-11615315	K562	blood:	n/a	chr8:11614303-11614312 chr8:11613903-11613913 chr8:11614303-11614313 chr8:11614305-11614312 chr8:11614305-11614315
5	POLR2A	chr8:11614376-11614580	HepG2	liver:	n/a	n/a
6	CCNT2	chr8:11614195-11614775	K562	blood:	n/a	n/a
7	TEAD4	chr8:11614083-11614621	K562	blood:	n/a	n/a
8	RCOR1	chr8:11614201-11614656	K562	blood:	n/a	n/a
9	GATA1	chr8:11613850-11614749	PBDE	blood:	n/a	chr8:11614303-11614312 chr8:11613903-11613913 chr8:11614303-11614313 chr8:11614305-11614312 chr8:11614305-11614315
10	MAX	chr8:11614123-11614602	K562	blood:	n/a	n/a
11	UBTF	chr8:11614052-11614621	K562	blood:	n/a	n/a
12	UBTF	chr8:11614237-11614624	K562	blood:	n/a	n/a
13	MAZ	chr8:11613894-11614586	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11614568-11614618	SK-N-SH	brain:	n/a
2	chr8:11614568-11614618	HRPEpiC	eye:	n/a
3	chr8:11614568-11614618	HRE	kidney:	n/a
4	chr8:11614568-11614618	HAEpiC	amniotic membrane:	n/a
5	chr8:11614568-11614618	AoSMC	blood vessel:	n/a
6	chr8:11614568-11614618	HCPEpiC	choroid plexus:	n/a
7	chr8:11614568-11614618	GM06990	blood:	n/a
8	chr8:11614568-11614618	SK-N-SH_RA	brain:	n/a
9	chr8:11614568-11614618	AG10803	skin:	n/a
10	chr8:11614568-11614618	GM12891	blood:	n/a
11	chr8:11614568-11614618	HCT-116	colon:	n/a
12	chr8:11614568-11614618	PrEC	prostate:	n/a
13	chr8:11614568-11614618	HIPEpiC	eye:	n/a
14	chr8:11614568-11614618	NT2-D1	testis:	n/a
15	chr8:11614568-11614618	NH-A	brain:	n/a
16	chr8:11614568-11614618	HNPCEpiC	eye:	n/a
17	chr8:11614568-11614618	AG04450	lung:	fetal
18	chr8:11614568-11614618	U87	brain:	n/a
19	chr8:11614568-11614618	T-47D	breast:	n/a
20	chr8:11614568-11614618	HPAEpiC	pulmonary alveolar:	n/a
21	chr8:11614568-11614618	HEEpiC	esophagus:	n/a
22	chr8:11614568-11614618	AG04449	skin:	fetal
23	chr8:11614568-11614618	ECC-1	luminal epithelium:	n/a
24	chr8:11614568-11614618	GM12892	blood:	n/a
25	chr8:11614568-11614618	PANC-1	pancreas:	n/a
26	chr8:11614568-11614618	A549	lung:	n/a
27	chr8:11614568-11614618	GM12878	blood:	n/a
28	chr8:11614568-11614618	Hela-S3	cervix:	n/a
29	chr8:11614568-11614618	HCM	heart:	n/a
30	chr8:11614568-11614618	H1-hESC	embryonic stem cell:	embryo
31	chr8:11614568-11614618	NHDF-neo	bronchial:	n/a
32	chr8:11614568-11614618	MCF-7	breast:	n/a
33	chr8:11614568-11614618	GM19239	blood:	n/a
34	chr8:11614568-11614618	LNCaP	prostate:	n/a
35	chr8:11614568-11614618	SAEC	small airway:	n/a
36	chr8:11614568-11614618	HEK293	kidney:	embryo
37	chr8:11614568-11614618	Hepatocyte	liver:	n/a
38	chr8:11614568-11614618	SKMC	muscle:	n/a
39	chr8:11614568-11614618	Jurkat	blood:	n/a
40	chr8:11614568-11614618	CMK	blood:	n/a
41	chr8:11614568-11614618	HMEC	breast:	n/a
42	chr8:11614568-11614618	PFSK-1	brain:	n/a
43	chr8:11614568-11614618	RPTEC	kidney:	n/a
44	chr8:11614568-11614618	HepG2	liver:	n/a
45	chr8:11614568-11614618	HCF	heart:	n/a
46	chr8:11614568-11614618	BE2_C	brain:	n/a
47	chr8:11614568-11614618	HL-60	blood:	n/a
48	chr8:11614568-11614618	MCF10A-Er-Src	breast:	n/a
49	chr8:11614568-11614618	BJ	skin:	n/a
50	chr8:11614568-11614618	K562	blood:	n/a

No data

Variant related genes	Relation type
C8orf49	TF binding region
C8orf49	CpG island

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10503425	1.00[GIH][hapmap];0.88[MKK][hapmap];1.00[ASN][1000 genomes]
rs1065712	1.00[ASN][1000 genomes]
rs17153747	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17153752	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17810696	1.00[ASN][1000 genomes]
rs17810775	1.00[ASN][1000 genomes]
rs2645398	1.00[ASN][1000 genomes]
rs2645444	1.00[ASN][1000 genomes]
rs2686188	1.00[ASN][1000 genomes]
rs2740431	1.00[ASN][1000 genomes]
rs28628715	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28709984	1.00[ASN][1000 genomes]
rs3729853	1.00[ASN][1000 genomes]
rs4124646	1.00[ASN][1000 genomes]
rs4840582	1.00[ASN][1000 genomes]
rs4840584	1.00[ASN][1000 genomes]
rs4840585	1.00[ASN][1000 genomes]
rs4841584	1.00[ASN][1000 genomes]
rs4841585	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841586	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841593	1.00[ASN][1000 genomes]
rs55650299	1.00[ASN][1000 genomes]
rs55658394	1.00[ASN][1000 genomes]
rs55757177	1.00[ASN][1000 genomes]
rs55848834	1.00[ASN][1000 genomes]
rs55877487	1.00[ASN][1000 genomes]
rs56043655	1.00[ASN][1000 genomes]
rs56187811	1.00[ASN][1000 genomes]
rs56213203	1.00[ASN][1000 genomes]
rs56303605	1.00[ASN][1000 genomes]
rs59431377	0.80[EUR][1000 genomes]
rs66535756	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7010927	1.00[ASN][1000 genomes]
rs73205195	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73207235	1.00[ASN][1000 genomes]
rs73207239	1.00[ASN][1000 genomes]
rs73207245	1.00[ASN][1000 genomes]
rs73207246	1.00[ASN][1000 genomes]
rs8191513	1.00[ASN][1000 genomes]
rs8191538	1.00[ASN][1000 genomes]
rs8191556	1.00[ASN][1000 genomes]
rs8191558	1.00[ASN][1000 genomes]
rs8191560	1.00[ASN][1000 genomes]
rs8191605	1.00[ASN][1000 genomes]
rs8191606	1.00[ASN][1000 genomes]
rs8191607	1.00[ASN][1000 genomes]
rs8191608	1.00[ASN][1000 genomes]
rs8191617	1.00[ASN][1000 genomes]
rs8191625	1.00[ASN][1000 genomes]
rs8191676	1.00[ASN][1000 genomes]
rs904006	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv890359	chr8:11599570-11617240	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3729856	NEIL2	cis	Nerve Tibial	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11604800-11616800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:11606000-11616200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:11606200-11617400	Strong transcription	HepG2	liver
4	chr8:11607000-11622800	Weak transcription	Stomach Mucosa	stomach
5	chr8:11608800-11619400	Strong transcription	Duodenum Mucosa	Duodenum
6	chr8:11609200-11618600	Strong transcription	Ovary	ovary
7	chr8:11610200-11618400	Strong transcription	Liver	Liver
8	chr8:11610600-11621200	Strong transcription	Fetal Intestine Small	intestine
9	chr8:11610800-11615400	Enhancers	Fetal Heart	heart
10	chr8:11611200-11617000	Strong transcription	Placenta	Placenta
11	chr8:11611400-11618000	Strong transcription	Pancreas	Pancrea
12	chr8:11612600-11614800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:11612800-11615200	Enhancers	K562	blood
14	chr8:11614200-11615800	Genic enhancers	Left Ventricle	heart
15	chr8:11614400-11614600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:11614400-11614600	Genic enhancers	Gastric	stomach
17	chr8:11614400-11615200	Genic enhancers	Right Atrium	heart
18	chr8:11614400-11615800	Genic enhancers	Right Ventricle	heart
19	chr8:11614400-11616200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:11614400-11616200	Strong transcription	Fetal Intestine Large	intestine
21	chr8:11614400-11619200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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