Variant report

Variant	rs601047
Chromosome Location	chr11:64693604-64693605
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr11:64693410-64693990	PBDE	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64683710..64686843-chr11:64689150..64693843,9	MCF-7	breast:
2	chr11:64690425..64693604-chr11:64763571..64767241,5	K562	blood:
3	chr11:64689194..64695395-chr11:64699461..64704301,10	K562	blood:
4	chr11:64690400..64694324-chr11:64737120..64740822,5	K562	blood:
5	chr11:64691872..64694652-chr11:64781595..64784560,2	K562	blood:
6	chr11:64611696..64613952-chr11:64692565..64694865,2	K562	blood:
7	chr11:64543505..64547238-chr11:64690556..64694712,4	K562	blood:
8	chr11:64692310..64694370-chr11:64695188..64697596,2	MCF-7	breast:
9	chr11:64692132..64694352-chr11:64806387..64808974,2	K562	blood:
10	chr11:64683337..64686600-chr11:64690985..64694112,6	MCF-7	breast:
11	chr11:64691374..64695669-chr11:64701131..64705582,6	MCF-7	breast:

No data

Variant related genes	Relation type
PPP2R5B	TF binding region
ENSG00000213465	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000269038	Chromatin interaction
ENSG00000149735	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000168070	Chromatin interaction
ENSG00000171219	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12293826	0.85[YRI][hapmap];0.89[AMR][1000 genomes]
rs2904963	0.90[ASW][hapmap];0.88[LWK][hapmap];0.91[MKK][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs601805	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606412	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs606974	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61740228	0.89[AMR][1000 genomes]
rs619328	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs628595	0.81[ASW][hapmap]
rs630585	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs632555	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs635603	0.85[AFR][1000 genomes]
rs677805	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs684250	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7103328	0.84[YRI][hapmap]
rs7113740	0.89[AMR][1000 genomes]
rs7925178	0.92[YRI][hapmap]

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	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
2	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
3	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
4	nsv897704	chr11:64584987-64701030	Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
5	nsv897705	chr11:64591679-64701030	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
6	nsv897706	chr11:64591679-64721908	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
7	nsv897707	chr11:64600002-64701030	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
8	nsv897708	chr11:64602757-64695271	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1028 gene(s)	inside rSNPs	diseases
9	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
10	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64692800-64693800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:64692800-64693800	Enhancers	Spleen	Spleen
3	chr11:64692800-64694800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:64692800-64697600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:64692800-64702200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:64693000-64693800	Enhancers	Liver	Liver
7	chr11:64693000-64693800	Enhancers	Duodenum Mucosa	Duodenum
8	chr11:64693000-64693800	Active TSS	HSMM	muscle
9	chr11:64693000-64694000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:64693000-64694000	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr11:64693000-64694000	Enhancers	Primary B cells from cord blood	blood
12	chr11:64693000-64694000	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:64693000-64694000	Enhancers	Primary T cells fromperipheralblood	blood
14	chr11:64693000-64694000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr11:64693000-64694000	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr11:64693000-64694200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:64693000-64694200	Weak transcription	Primary T cells from cord blood	blood
18	chr11:64693000-64694200	Enhancers	GM12878-XiMat	blood
19	chr11:64693000-64694400	Enhancers	Fetal Brain Male	brain
20	chr11:64693000-64694400	Enhancers	Thymus	Thymus
21	chr11:64693000-64694800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:64693000-64695200	Weak transcription	HSMMtube	muscle
23	chr11:64693000-64697800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:64693000-64699200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr11:64693000-64700200	Weak transcription	A549	lung
26	chr11:64693000-64700400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:64693000-64700600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:64693000-64702000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:64693000-64702600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr11:64693000-64703000	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr11:64693000-64703000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:64693000-64703000	Weak transcription	Fetal Kidney	kidney
33	chr11:64693000-64703000	Weak transcription	K562	blood
34	chr11:64693000-64703600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:64693200-64693800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:64693200-64693800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:64693200-64693800	Enhancers	Fetal Muscle Leg	muscle
38	chr11:64693200-64693800	Enhancers	Psoas Muscle	Psoas
39	chr11:64693200-64693800	Enhancers	Right Atrium	heart
40	chr11:64693200-64694000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:64693200-64694000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:64693200-64694000	Enhancers	Brain Substantia Nigra	brain
43	chr11:64693200-64694000	Weak transcription	Fetal Intestine Small	intestine
44	chr11:64693200-64694000	Genic enhancers	Fetal Stomach	stomach
45	chr11:64693200-64694000	Enhancers	Left Ventricle	heart
46	chr11:64693200-64694000	Enhancers	Lung	lung
47	chr11:64693200-64694000	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr11:64693200-64694000	Enhancers	NHDF-Ad	bronchial
49	chr11:64693200-64694200	Weak transcription	Aorta	Aorta
50	chr11:64693200-64694200	Enhancers	Placenta	Placenta

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