Variant report

Variant	rs1834450
Chromosome Location	chr8:6564609-6564610
allele	C/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	TEAD4	chr8:6563763-6564677	K562	blood:	n/a	n/a
2	POLR2A	chr8:6564442-6564664	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:6563772-6564746	GM12891	blood:	n/a	n/a
4	POLR2A	chr8:6563393-6568475	GM18505	blood:	n/a	n/a
5	GATA1	chr8:6563778-6564692	PBDE	blood:	n/a	chr8:6564203-6564213
6	MXI1	chr8:6563924-6564724	GM12878	blood:	n/a	chr8:6564298-6564313
7	PML	chr8:6563447-6564788	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:6563581-6564795	PBDE	blood:	n/a	n/a
9	POLR2A	chr8:6563702-6564833	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:6564214-6564799	GM12891	blood:	n/a	n/a
11	POLR2A	chr8:6563446-6564799	GM12891	blood:	n/a	n/a
12	JUND	chr8:6563886-6564675	K562	blood:	n/a	n/a
13	TBL1XR1	chr8:6563838-6564636	K562	blood:	n/a	n/a
14	NFATC1	chr8:6563693-6564818	GM12878	blood:	n/a	chr8:6564768-6564781
15	MYC	chr8:6563933-6564665	K562	blood:	n/a	n/a
16	ATF2	chr8:6563611-6564821	GM12878	blood:	n/a	n/a
17	RCOR1	chr8:6563839-6564642	K562	blood:	n/a	n/a
18	POLR2A	chr8:6563528-6568801	GM12878	blood:	n/a	n/a
19	STAT5A	chr8:6563697-6564781	GM12878	blood:	n/a	chr8:6564313-6564321
20	NFATC1	chr8:6563319-6564869	GM12878	blood:	n/a	chr8:6564768-6564781
21	BCLAF1	chr8:6563688-6564769	GM12878	blood:	n/a	n/a
22	SMC3	chr8:6563764-6564664	GM12878	blood:	n/a	n/a
23	POLR2A	chr8:6563793-6564821	GM12892	blood:	n/a	n/a
24	MTA3	chr8:6563318-6566068	GM12878	blood:	n/a	n/a
25	POLR2A	chr8:6563447-6564811	GM12892	blood:	n/a	n/a
26	TBP	chr8:6563827-6564667	K562	blood:	n/a	n/a
27	POLR2A	chr8:6564205-6564637	GM12878	blood:	n/a	n/a
28	MTA3	chr8:6563772-6564756	GM12878	blood:	n/a	n/a
29	POLR2A	chr8:6563500-6564850	GM12892	blood:	n/a	n/a
30	BCLAF1	chr8:6563752-6564646	GM12878	blood:	n/a	n/a
31	WRNIP1	chr8:6563705-6564633	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:6563481-6564808	GM12891	blood:	n/a	n/a
33	NFIC	chr8:6563768-6564613	GM12878	blood:	n/a	n/a
34	ZNF384	chr8:6563898-6564628	K562	blood:	n/a	n/a
35	POLR2A	chr8:6563320-6569676	GM12878	blood:	n/a	n/a
36	POLR2A	chr8:6563688-6567085	K562	blood:	n/a	n/a
37	CUX1	chr8:6563790-6564686	K562	blood:	n/a	chr8:6564232-6564243
38	POLR2A	chr8:6559898-6568153	GM12892	blood:	n/a	n/a
39	POLR2A	chr8:6563623-6564825	GM12892	blood:	n/a	n/a
40	POLR2A	chr8:6563304-6568497	GM12891	blood:	n/a	n/a
41	POLR2A	chr8:6563551-6564826	GM12878	blood:	n/a	n/a
42	CTCF	chr8:6564500-6564650	GM12864	blood:	n/a	chr8:6564552-6564559

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:6564149..6568070-chr8:6601682..6607895,12	K562	blood:
2	chr8:6564149..6568457-chr8:6601682..6605924,8	K562	blood:

Variant related genes	Relation type
AGPAT5	TF binding region
ENSG00000266038	Chromatin interaction
ENSG00000155189	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11137064	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1425784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1425785	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1425786	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542849	1.00[CEU][hapmap]
rs1559745	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs1559747	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs17077966	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17078011	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17078066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1978547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059537	0.98[ASN][1000 genomes]
rs2114060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162152	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272772	0.81[ASN][1000 genomes]
rs2277135	0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs28478952	0.83[ASN][1000 genomes]
rs2911981	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2911986	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2911988	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911989	0.85[EUR][1000 genomes]
rs2911990	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2912073	1.00[CEU][hapmap]
rs2912083	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928578	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2928583	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[ASN][1000 genomes]
rs2928612	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2928614	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928622	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs2978949	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2980687	1.00[CEU][hapmap]
rs2980691	1.00[CEU][hapmap]
rs3811118	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[ASN][1000 genomes]
rs3811120	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.81[ASN][1000 genomes]
rs4840574	0.86[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4841551	0.98[ASN][1000 genomes]
rs4841594	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4841654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs4841729	0.81[ASN][1000 genomes]
rs58725842	0.81[ASN][1000 genomes]
rs61622585	0.81[ASN][1000 genomes]
rs6988650	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6989392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6996843	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6996864	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6997196	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7003121	0.93[ASN][1000 genomes]
rs7008408	1.00[CHB][hapmap]
rs7016859	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs714508	1.00[CEU][hapmap]
rs7813375	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[ASN][1000 genomes]
rs7825937	0.88[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7830784	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs7845315	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9773764	0.81[ASN][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	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
10	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv933768	chr8:6482944-6618221	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv1030637	chr8:6545498-6669949	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1034115	chr8:6546984-6665832	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6543200-6565200	Weak transcription	Left Ventricle	heart
2	chr8:6549400-6565000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr8:6552000-6565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:6552000-6565200	Weak transcription	Pancreas	Pancrea
5	chr8:6554200-6565200	Weak transcription	Aorta	Aorta
6	chr8:6554600-6565000	Weak transcription	Brain Hippocampus Middle	brain
7	chr8:6555600-6565200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:6557000-6565200	Weak transcription	Lung	lung
9	chr8:6557400-6565000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:6558000-6565000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:6562200-6565000	Weak transcription	Fetal Stomach	stomach
12	chr8:6563000-6565000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr8:6563200-6565000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:6563200-6565000	Enhancers	Primary B cells from cord blood	blood
15	chr8:6563400-6564800	Flanking Active TSS	K562	blood
16	chr8:6563400-6565000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:6563600-6565000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:6563600-6565000	Enhancers	Primary B cells from peripheral blood	blood
19	chr8:6563600-6565200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:6563600-6565200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr8:6563600-6565200	Flanking Active TSS	Dnd41	blood
22	chr8:6563800-6565000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr8:6563800-6565000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:6563800-6565000	Enhancers	Fetal Thymus	thymus
25	chr8:6563800-6565200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr8:6563800-6565600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:6564000-6564800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:6564000-6564800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr8:6564000-6564800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:6564000-6564800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:6564000-6564800	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr8:6564000-6564800	Enhancers	Fetal Muscle Leg	muscle
33	chr8:6564000-6564800	Flanking Active TSS	Thymus	Thymus
34	chr8:6564000-6565000	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:6564000-6565000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:6564000-6565000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr8:6564000-6565000	Enhancers	HUVEC	blood vessel
38	chr8:6564000-6565200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:6564000-6565400	Active TSS	Colonic Mucosa	Colon
40	chr8:6564000-6566600	Active TSS	Rectal Smooth Muscle	rectum
41	chr8:6564000-6567400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:6564000-6567600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:6564000-6568400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr8:6564200-6564800	Enhancers	Brain Germinal Matrix	brain
45	chr8:6564200-6564800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr8:6564200-6564800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr8:6564200-6564800	Flanking Active TSS	Hela-S3	cervix
48	chr8:6564200-6565000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr8:6564200-6565000	Enhancers	Primary T cells from cord blood	blood
50	chr8:6564200-6565000	Enhancers	Primary T helper cells fromperipheralblood	blood

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