Variant report

Variant	rs547889731
Chromosome Location	chr8:11755995-11755996
allele	A/G
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:2)
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	chr8:11755993-11756043	SK-N-SH_RA	brain:	n/a
2	chr8:11755993-11756043	U87	brain:	n/a
3	chr8:11755993-11756043	AG04449	skin:	fetal
4	chr8:11755993-11756043	NH-A	brain:	n/a
5	chr8:11755993-11756043	SAEC	small airway:	n/a
6	chr8:11755993-11756043	PrEC	prostate:	n/a
7	chr8:11755993-11756043	Caco-2	colon:	n/a
8	chr8:11755993-11756043	IMR90	lung:	fetal
9	chr8:11755993-11756043	RPTEC	kidney:	n/a
10	chr8:11755993-11756043	HIPEpiC	eye:	n/a
11	chr8:11755993-11756043	K562	blood:	n/a
12	chr8:11755993-11756043	SK-N-MC	brain:	n/a
13	chr8:11755993-11756043	NB4	blood:	n/a
14	chr8:11755993-11756043	PFSK-1	brain:	n/a
15	chr8:11755993-11756043	SK-N-SH	brain:	n/a
16	chr8:11755993-11756043	HCPEpiC	choroid plexus:	n/a
17	chr8:11755993-11756043	BJ	skin:	n/a
18	chr8:11755993-11756043	Jurkat	blood:	n/a
19	chr8:11755993-11756043	MCF10A-Er-Src	breast:	n/a
20	chr8:11755993-11756043	NHBE	bronchial:	n/a
21	chr8:11755993-11756043	A549	lung:	n/a
22	chr8:11755993-11756043	HepG2	liver:	n/a
23	chr8:11755993-11756043	HRPEpiC	eye:	n/a
24	chr8:11755993-11756043	Hela-S3	cervix:	n/a
25	chr8:11755993-11756043	ovcar-3	ovarian:	n/a
26	chr8:11755993-11756043	PANC-1	pancreas:	n/a
27	chr8:11755993-11756043	GM06990	blood:	n/a
28	chr8:11755993-11756043	HCF	heart:	n/a
29	chr8:11755993-11756043	MCF-7	breast:	n/a
30	chr8:11755993-11756043	HRE	kidney:	n/a
31	chr8:11755993-11756043	BE2_C	brain:	n/a
32	chr8:11755993-11756043	SKMC	muscle:	n/a
33	chr8:11755993-11756043	GM19239	blood:	n/a
34	chr8:11755993-11756043	ECC-1	luminal epithelium:	n/a
35	chr8:11755993-11756043	AG04450	lung:	fetal
36	chr8:11755993-11756043	HL-60	blood:	n/a
37	chr8:11755993-11756043	NT2-D1	testis:	n/a
38	chr8:11755993-11756043	T-47D	breast:	n/a
39	chr8:11755993-11756043	AG09309	skin:	n/a
40	chr8:11755993-11756043	AoSMC	blood vessel:	n/a
41	chr8:11755993-11756043	HMEC	breast:	n/a
42	chr8:11755993-11756043	HPAEpiC	pulmonary alveolar:	n/a
43	chr8:11755993-11756043	GM12892	blood:	n/a
44	chr8:11755993-11756043	Hepatocyte	liver:	n/a
45	chr8:11755993-11756043	HEK293	kidney:	embryo
46	chr8:11755993-11756043	GM12878	blood:	n/a
47	chr8:11755993-11756043	AG10803	skin:	n/a
48	chr8:11755993-11756043	H1-hESC	embryonic stem cell:	embryo
49	chr8:11755993-11756043	HAEpiC	amniotic membrane:	n/a
50	chr8:11755993-11756043	NHDF-neo	bronchial:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11718467..11721222-chr8:11754378..11756104,3	K562	blood:
2	chr8:11746436..11748896-chr8:11754900..11757322,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255144	CpG island
ENSG00000164733	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 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	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
4	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
5	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
6	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
7	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
8	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv1031158	chr8:11666558-11759064	Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv539477	chr8:11666558-11759064	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	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
14	nsv890367	chr8:11668153-11793529	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	nsv1031972	chr8:11696393-11805961	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv539481	chr8:11696393-11805961	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	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
22	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
23	nsv1032736	chr8:11727357-11762693	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11745800-11759600	Weak transcription	Right Atrium	heart
2	chr8:11749800-11759400	Weak transcription	NHEK	skin
3	chr8:11753400-11756400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr8:11753600-11756800	Enhancers	Primary B cells from cord blood	blood
5	chr8:11754000-11756200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:11754200-11756200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:11754200-11756200	Flanking Active TSS	GM12878-XiMat	blood
8	chr8:11754400-11756000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr8:11754400-11756000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr8:11754400-11756000	Enhancers	NHDF-Ad	bronchial
11	chr8:11754400-11756200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:11754400-11756600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:11754600-11756000	Enhancers	Placenta	Placenta
14	chr8:11754600-11756200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:11754800-11756000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr8:11754800-11756000	Enhancers	Fetal Intestine Small	intestine
17	chr8:11754800-11756800	Enhancers	Fetal Intestine Large	intestine
18	chr8:11754800-11759600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:11755000-11756000	Enhancers	K562	blood
20	chr8:11755000-11756200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:11755000-11756800	Enhancers	Primary B cells from peripheral blood	blood
22	chr8:11755000-11757000	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:11755000-11759000	Weak transcription	Ovary	ovary
24	chr8:11755000-11759600	Weak transcription	Esophagus	oesophagus
25	chr8:11755000-11759600	Weak transcription	Pancreas	Pancrea
26	chr8:11755000-11760000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:11755200-11756200	Enhancers	Duodenum Mucosa	Duodenum
28	chr8:11755200-11759200	Weak transcription	A549	lung
29	chr8:11755200-11759400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:11755200-11759400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:11755200-11759400	Weak transcription	Stomach Mucosa	stomach
32	chr8:11755200-11759600	Weak transcription	Left Ventricle	heart
33	chr8:11755400-11756000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr8:11755400-11756000	Enhancers	Spleen	Spleen
35	chr8:11755400-11759200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:11755400-11759400	Weak transcription	HMEC	breast
37	chr8:11755600-11756000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr8:11755600-11756800	Enhancers	Liver	Liver
39	chr8:11755600-11758800	Weak transcription	Fetal Kidney	kidney
40	chr8:11755600-11759200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:11755600-11759200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:11755600-11759200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:11755600-11759200	Weak transcription	NHLF	lung
44	chr8:11755600-11759400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:11755600-11759400	Weak transcription	Adipose Nuclei	Adipose
46	chr8:11755600-11759400	Weak transcription	NH-A	brain
47	chr8:11755800-11756000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:11755800-11756000	Enhancers	Brain Substantia Nigra	brain
49	chr8:11755800-11756200	Flanking Active TSS	HepG2	liver
50	chr8:11755800-11759200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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