Variant report

Variant	rs2033562
Chromosome Location	chr8:103547739-103547740
allele	C/G
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	ZNF384	chr8:103546764-103548628	GM12878	blood:	n/a	n/a
2	ATF2	chr8:103547563-103548901	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:103547679-103548725	GM18951	blood:	n/a	n/a
4	FOXM1	chr8:103547549-103548844	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:103547586-103548226	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr8:103547527-103548826	GM12878	blood:	n/a	n/a
7	PML	chr8:103547505-103548919	GM12878	blood:	n/a	n/a
8	RELA	chr8:103547583-103548824	GM18505	blood:	n/a	n/a
9	TCF12	chr8:103547697-103550461	A549	lung:	n/a	chr8:103548853-103548860
10	POLR2A	chr8:103547646-103548860	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:103547592-103548247	GM12892	blood:	n/a	n/a
12	POLR2A	chr8:103547619-103548695	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:103547594-103548838	GM12878	blood:	n/a	n/a
14	MTA3	chr8:103547530-103548798	GM12878	blood:	n/a	n/a
15	RCOR1	chr8:103547705-103551463	IMR90	lung:	n/a	n/a
16	POLR2A	chr8:103547688-103548870	GM12892	blood:	n/a	n/a
17	MXI1	chr8:103547670-103548693	GM12878	blood:	n/a	n/a
18	NFIC	chr8:103546229-103548925	GM12878	blood:	n/a	chr8:103548105-103548121
19	FOS	chr8:103547679-103548612	MCF10A-Er-Src	breast:	n/a	chr8:103548047-103548058
20	STAT1	chr8:103547716-103547843	GM12878	blood:	n/a	n/a
21	POLR2A	chr8:103547414-103549522	MCF10A-Er-Src	breast:	n/a	n/a
22	RUNX3	chr8:103547659-103548899	GM12878	blood:	n/a	n/a
23	TBP	chr8:103547619-103548788	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:103547620-103548789	Raji	blood:	n/a	n/a
25	MTA3	chr8:103547511-103548964	GM12878	blood:	n/a	n/a
26	POLR2A	chr8:103547670-103548811	GM19099	blood:	n/a	n/a
27	RELA	chr8:103547690-103548862	GM15510	blood:	n/a	n/a
28	RELA	chr8:103547582-103548759	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:103437958..103439977-chr8:103547146..103549346,2	MCF-7	breast:
2	chr8:103423156..103426710-chr8:103547734..103551186,4	MCF-7	breast:
3	chr8:103540698..103544207-chr8:103546696..103550142,4	MCF-7	breast:
4	chr8:103539619..103542009-chr8:103547137..103548824,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-1224P	TF binding region
ENSG00000104517	Chromatin interaction
ENSG00000253633	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10088534	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095950	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10096810	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10103471	0.82[ASN][1000 genomes]
rs10104124	0.96[CEU][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13250010	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13265183	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1347318	0.96[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1347319	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347320	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1347321	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2033561	0.95[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2053129	0.87[AFR][1000 genomes]
rs2053130	0.85[AFR][1000 genomes]
rs28372594	0.82[ASN][1000 genomes]
rs4734636	0.95[CEU][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4734637	0.96[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734638	0.82[ASN][1000 genomes]
rs7823812	0.82[ASN][1000 genomes]
rs7836143	0.82[ASN][1000 genomes]
rs892503	0.81[ASN][1000 genomes]
rs919951	0.84[ASN][1000 genomes]
rs9297327	0.96[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1031769	chr8:103460754-103620283	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv539703	chr8:103460754-103620283	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2762761	chr8:103492356-103625244	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1831575	chr8:103498317-103585093	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1838972	chr8:103498317-103585093	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1024876	chr8:103512785-103576658	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3419415	chr8:103525141-103575507	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2033562	LOC730429///UBR5	Cis_1M	lymphoblastoid	RTeQTL
rs2033562	KLF10	Cis_1M	lymphoblastoid	RTeQTL
rs2033562	UBR5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103541000-103548000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:103541200-103549000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:103541400-103547800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:103541400-103547800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:103541400-103548000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:103541400-103548000	Weak transcription	Aorta	Aorta
7	chr8:103541400-103548200	Weak transcription	Pancreas	Pancrea
8	chr8:103541600-103547800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:103541600-103548000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr8:103541600-103548000	Weak transcription	Adipose Nuclei	Adipose
11	chr8:103541600-103548000	Weak transcription	Placenta	Placenta
12	chr8:103541800-103548000	Weak transcription	Brain Angular Gyrus	brain
13	chr8:103541800-103548000	Weak transcription	Brain Anterior Caudate	brain
14	chr8:103541800-103548000	Weak transcription	HSMMtube	muscle
15	chr8:103541800-103549800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:103543200-103547800	Weak transcription	HMEC	breast
17	chr8:103543400-103548000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:103543400-103549400	Weak transcription	K562	blood
19	chr8:103543600-103548200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:103544000-103550600	Enhancers	Fetal Brain Male	brain
21	chr8:103545800-103548600	Enhancers	Primary B cells from peripheral blood	blood
22	chr8:103546200-103548000	Enhancers	Hela-S3	cervix
23	chr8:103546200-103549000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:103546200-103549200	Enhancers	Osteobl	bone
25	chr8:103546200-103550200	Enhancers	NHDF-Ad	bronchial
26	chr8:103546400-103547800	Enhancers	A549	lung
27	chr8:103546400-103548600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:103546400-103548600	Enhancers	Primary B cells from cord blood	blood
29	chr8:103546400-103548800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr8:103546400-103550600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:103546600-103548200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:103546600-103549000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:103546600-103550200	Enhancers	Thymus	Thymus
34	chr8:103546600-103550200	Enhancers	NHLF	lung
35	chr8:103546600-103550400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:103546600-103550600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr8:103546600-103550600	Enhancers	Fetal Thymus	thymus
38	chr8:103546800-103547800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:103546800-103548000	Enhancers	Brain Germinal Matrix	brain
40	chr8:103546800-103550000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:103546800-103551400	Weak transcription	Right Ventricle	heart
42	chr8:103547000-103548000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:103547000-103548000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:103547000-103548000	Weak transcription	Right Atrium	heart
45	chr8:103547000-103549000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:103547000-103549600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:103547000-103556800	Weak transcription	Spleen	Spleen
48	chr8:103547200-103548000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:103547200-103548600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr8:103547200-103548800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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