Variant report

Variant	rs6991081
Chromosome Location	chr8:11839799-11839800
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:11839680-11839830	HCFaa	heart:	n/a	n/a
2	JUND	chr8:11839435-11840197	HCT-116	colon:	n/a	chr8:11839795-11839806 chr8:11839797-11839808 chr8:11839798-11839807 chr8:11839820-11839829 chr8:11839799-11839808
3	FOS	chr8:11839614-11839964	MCF10A-Er-Src	breast:	n/a	chr8:11839795-11839806 chr8:11839798-11839807 chr8:11839820-11839829 chr8:11839799-11839808
4	FOSL2	chr8:11839636-11839894	HepG2	liver:	n/a	chr8:11839795-11839806 chr8:11839798-11839807 chr8:11839820-11839829 chr8:11839799-11839808
5	JUND	chr8:11839655-11839947	HepG2	liver:	n/a	chr8:11839795-11839806 chr8:11839797-11839808 chr8:11839798-11839807 chr8:11839820-11839829 chr8:11839799-11839808
6	CTCF	chr8:11839720-11839870	HEK293	kidney:	n/a	n/a
7	CTCF	chr8:11839700-11839850	HMF	breast:	n/a	n/a
8	FOSL1	chr8:11839387-11840182	HCT-116	colon:	n/a	chr8:11839795-11839806 chr8:11839797-11839808 chr8:11839798-11839807 chr8:11839820-11839829 chr8:11839799-11839808
9	FOSL1	chr8:11839667-11839878	K562	blood:	n/a	chr8:11839795-11839806 chr8:11839797-11839808 chr8:11839798-11839807 chr8:11839820-11839829 chr8:11839799-11839808
10	FOSL1	chr8:11839483-11840130	HCT-116	colon:	n/a	chr8:11839795-11839806 chr8:11839797-11839808 chr8:11839798-11839807 chr8:11839820-11839829 chr8:11839799-11839808
11	FOSL1	chr8:11839663-11839916	K562	blood:	n/a	chr8:11839795-11839806 chr8:11839797-11839808 chr8:11839798-11839807 chr8:11839820-11839829 chr8:11839799-11839808
12	YY1	chr8:11839631-11839899	HCT-116	colon:	n/a	n/a
13	MYC	chr8:11839624-11839939	MCF10A-Er-Src	breast:	n/a	chr8:11839798-11839807
14	CTCF	chr8:11839720-11839870	NHEK	skin:	n/a	n/a
15	FOS	chr8:11839617-11839987	MCF10A-Er-Src	breast:	n/a	chr8:11839795-11839806 chr8:11839798-11839807 chr8:11839820-11839829 chr8:11839799-11839808
16	MAX	chr8:11839640-11839906	K562	blood:	n/a	chr8:11839798-11839807
17	FOS	chr8:11839614-11839974	MCF10A-Er-Src	breast:	n/a	chr8:11839795-11839806 chr8:11839798-11839807 chr8:11839820-11839829 chr8:11839799-11839808
18	CTCF	chr8:11839720-11839870	HMEC	breast:	n/a	n/a
19	CTCF	chr8:11839660-11839810	HCM	heart:	n/a	n/a
20	CTCF	chr8:11839700-11839850	HBMEC	blood vessel:	n/a	n/a
21	CBX3	chr8:11839401-11840135	HCT-116	colon:	n/a	n/a
22	MYC	chr8:11839656-11839939	MCF10A-Er-Src	breast:	n/a	chr8:11839798-11839807
23	TCF7L2	chr8:11839565-11839966	HCT-116	colon:	n/a	chr8:11839798-11839807
24	MAX	chr8:11839426-11840169	HCT-116	colon:	n/a	chr8:11839798-11839807
25	CTCF	chr8:11839680-11839830	HCT-116	colon:	n/a	n/a
26	CTCF	chr8:11839760-11839910	HAc	cerebellar:	n/a	n/a
27	CTCF	chr8:11839740-11839890	HMF	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11839780-11839830	GM06990	blood:	n/a
2	chr8:11839780-11839830	LNCaP	prostate:	n/a
3	chr8:11839780-11839830	Hepatocyte	liver:	n/a
4	chr8:11839780-11839830	HEEpiC	esophagus:	n/a
5	chr8:11839780-11839830	SKMC	muscle:	n/a
6	chr8:11839780-11839830	HL-60	blood:	n/a
7	chr8:11839780-11839830	ProgFib	skin:	n/a
8	chr8:11839780-11839830	AG09309	skin:	n/a
9	chr8:11839764-11839814	ECC-1	luminal epithelium:	n/a
10	chr8:11839780-11839830	PrEC	prostate:	n/a
11	chr8:11839780-11839830	HPAEpiC	pulmonary alveolar:	n/a
12	chr8:11839780-11839830	Caco-2	colon:	n/a
13	chr8:11839780-11839830	HCT-116	colon:	n/a
14	chr8:11839764-11839814	HAEpiC	amniotic membrane:	n/a
15	chr8:11839780-11839830	AG04450	lung:	fetal
16	chr8:11839764-11839814	IMR90	lung:	fetal
17	chr8:11839764-11839814	SK-N-SH	brain:	n/a
18	chr8:11839780-11839830	PFSK-1	brain:	n/a
19	chr8:11839764-11839814	U87	brain:	n/a
20	chr8:11839780-11839830	SAEC	small airway:	n/a
21	chr8:11839764-11839814	K562	blood:	n/a
22	chr8:11839764-11839814	NH-A	brain:	n/a
23	chr8:11839780-11839830	SK-N-SH_RA	brain:	n/a
24	chr8:11839780-11839830	GM19239	blood:	n/a
25	chr8:11839780-11839830	GM12891	blood:	n/a
26	chr8:11839780-11839830	SK-N-SH	brain:	n/a
27	chr8:11839764-11839814	PFSK-1	brain:	n/a
28	chr8:11839780-11839830	U87	brain:	n/a
29	chr8:11839780-11839830	NHBE	bronchial:	n/a
30	chr8:11839764-11839814	Hepatocyte	liver:	n/a
31	chr8:11839764-11839814	SK-N-MC	brain:	n/a
32	chr8:11839780-11839830	AG09319	gingival:	n/a
33	chr8:11839764-11839814	Hela-S3	cervix:	n/a
34	chr8:11839764-11839814	T-47D	breast:	n/a
35	chr8:11839764-11839814	PrEC	prostate:	n/a
36	chr8:11839764-11839814	NHBE	bronchial:	n/a
37	chr8:11839780-11839830	HCM	heart:	n/a
38	chr8:11839780-11839830	PANC-1	pancreas:	n/a
39	chr8:11839780-11839830	H1-hESC	embryonic stem cell:	embryo
40	chr8:11839764-11839814	AG04450	lung:	fetal
41	chr8:11839764-11839814	SKMC	muscle:	n/a
42	chr8:11839764-11839814	ProgFib	skin:	n/a
43	chr8:11839764-11839814	HCT-116	colon:	n/a
44	chr8:11839780-11839830	Hela-S3	cervix:	n/a
45	chr8:11839780-11839830	HMEC	breast:	n/a
46	chr8:11839780-11839830	HRCEpiC	kidney:	n/a
47	chr8:11839764-11839814	MCF10A-Er-Src	breast:	n/a
48	chr8:11839764-11839814	GM06990	blood:	n/a
49	chr8:11839780-11839830	RPTEC	kidney:	n/a
50	chr8:11839780-11839830	AoSMC	blood vessel:	n/a

Variant related genes	Relation type
DEFB135	TF binding region
DEFB135	CpG island

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10086836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs10086923	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10106295	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11998415	0.92[ASN][1000 genomes]
rs28524834	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4841662	0.86[JPT][hapmap]
rs6985349	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7004833	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73542308	0.86[EUR][1000 genomes]
rs73542310	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73542311	0.88[EUR][1000 genomes]
rs73542314	0.88[EUR][1000 genomes]
rs7830855	0.88[EUR][1000 genomes]
rs7839224	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv890366	chr8:11666451-11900847	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	20 gene(s)	inside rSNPs	diseases
6	nsv1018042	chr8:11667496-11882385	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv890369	chr8:11671041-11840011	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1016952	chr8:11679271-11849955	Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1029093	chr8:11679271-11858466	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv539478	chr8:11679271-11858466	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv610293	chr8:11698747-11929734	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv516685	chr8:11698747-12570199	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
13	nsv1029694	chr8:11727357-11858466	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv2758148	chr8:11741558-12567301	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh 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	70 gene(s)	inside rSNPs	diseases
15	nsv427815	chr8:11741558-12567301	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
16	nsv428195	chr8:11741558-12567301	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
17	esv2759593	chr8:11741558-12601971	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
18	nsv1029934	chr8:11747133-11858466	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1016332	chr8:11751798-11861797	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv1016544	chr8:11754663-11849955	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv539482	chr8:11754663-11849955	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv890370	chr8:11755513-11900847	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv491752	chr8:11758865-12467543	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
24	nsv890371	chr8:11771089-11896831	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	nsv1026344	chr8:11786255-11897177	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv1019489	chr8:11802328-11858466	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	nsv917210	chr8:11805761-12404066	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
28	nsv465468	chr8:11818364-11898209	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	nsv610294	chr8:11818364-11898209	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
30	nsv981911	chr8:11829748-11842047	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11838600-11843600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:11838600-11843600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:11839400-11839800	Enhancers	HMEC	breast
4	chr8:11839400-11840000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:11839400-11840200	Enhancers	NH-A	brain
6	chr8:11839600-11839800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:11839600-11839800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:11839600-11839800	Bivalent Enhancer	NHEK	skin
9	chr8:11839600-11840000	Bivalent Enhancer	A549	lung

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