Variant report

Variant	rs57512065
Chromosome Location	chr11:72453646-72453647
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:72437210..72438742-chr11:72452236..72454044,2	K562	blood:
2	chr11:72450505..72454170-chr11:72508930..72511524,3	MCF-7	breast:
3	chr11:72451490..72453661-chr11:72534847..72537642,2	K562	blood:
4	chr11:72451428..72454228-chr11:72483935..72486339,2	K562	blood:
5	chr11:72451471..72458825-chr11:72459585..72465738,9	MCF-7	breast:
6	chr11:72452949..72455734-chr11:72495998..72498829,2	MCF-7	breast:
7	chr11:72451593..72454770-chr11:72503642..72506331,3	MCF-7	breast:
8	chr11:72436615..72438742-chr11:72452115..72454044,3	K562	blood:
9	chr11:72453064..72455584-chr11:72523759..72526805,3	K562	blood:
10	chr11:72445144..72447401-chr11:72452350..72454183,2	K562	blood:
11	chr11:72450021..72454866-chr11:72522359..72525675,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214530	Chromatin interaction
ENSG00000168010	Chromatin interaction
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1056864	1.00[AMR][1000 genomes]
rs10751207	1.00[AMR][1000 genomes]
rs1299161	1.00[AMR][1000 genomes]
rs366711	1.00[AMR][1000 genomes]
rs371903	1.00[AMR][1000 genomes]
rs379276	1.00[AMR][1000 genomes]
rs379638	1.00[AMR][1000 genomes]
rs390130	1.00[AMR][1000 genomes]
rs392818	1.00[AMR][1000 genomes]
rs408269	1.00[AMR][1000 genomes]
rs414178	1.00[AMR][1000 genomes]
rs424234	1.00[AMR][1000 genomes]
rs452228	1.00[AMR][1000 genomes]
rs55816648	1.00[AMR][1000 genomes]
rs56251316	1.00[AMR][1000 genomes]
rs577536	1.00[AMR][1000 genomes]
rs58744558	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59222962	1.00[AMR][1000 genomes]
rs59414438	1.00[AMR][1000 genomes]
rs61417743	1.00[AMR][1000 genomes]
rs633405	1.00[AMR][1000 genomes]
rs644698	1.00[AMR][1000 genomes]
rs7108477	1.00[AMR][1000 genomes]
rs7110834	1.00[AMR][1000 genomes]
rs73529620	1.00[AMR][1000 genomes]
rs73529662	1.00[AMR][1000 genomes]
rs73529668	1.00[AMR][1000 genomes]
rs73529672	1.00[AMR][1000 genomes]
rs73541179	1.00[AMR][1000 genomes]
rs73541198	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73542594	1.00[AMR][1000 genomes]
rs73543236	1.00[AMR][1000 genomes]
rs73543237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73543245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73543251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73544388	1.00[AMR][1000 genomes]
rs73544400	1.00[AMR][1000 genomes]
rs73546206	1.00[AMR][1000 genomes]
rs73546230	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72446200-72455400	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr11:72446600-72454000	Enhancers	Placenta	Placenta
3	chr11:72446600-72454400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr11:72446600-72458000	Enhancers	Primary T cells fromperipheralblood	blood
5	chr11:72446800-72456000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
6	chr11:72446800-72456200	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr11:72446800-72459200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr11:72447000-72453800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr11:72447400-72459000	Enhancers	Brain Hippocampus Middle	brain
10	chr11:72447600-72454200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr11:72447600-72454400	Enhancers	Brain Substantia Nigra	brain
12	chr11:72448200-72453800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:72448200-72456400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr11:72448400-72453800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:72448400-72457400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:72448400-72461600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:72448600-72454400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr11:72448600-72461000	Weak transcription	Dnd41	blood
19	chr11:72449200-72456000	Enhancers	Spleen	Spleen
20	chr11:72449400-72456200	Enhancers	Fetal Thymus	thymus
21	chr11:72449600-72462200	Weak transcription	HSMM	muscle
22	chr11:72449800-72454600	Weak transcription	Fetal Brain Male	brain
23	chr11:72449800-72462200	Weak transcription	Gastric	stomach
24	chr11:72450000-72454000	Enhancers	Fetal Muscle Leg	muscle
25	chr11:72450000-72462200	Genic enhancers	Fetal Intestine Small	intestine
26	chr11:72450200-72454000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:72450200-72455200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:72450400-72453800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:72450400-72453800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr11:72450400-72454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:72450400-72455400	Enhancers	Liver	Liver
32	chr11:72450400-72456400	Enhancers	Primary hematopoietic stem cells	blood
33	chr11:72450600-72453800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:72450600-72456200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr11:72451000-72453800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:72451000-72454600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:72451000-72456000	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:72451000-72461000	Weak transcription	Primary T cells from cord blood	blood
39	chr11:72451000-72462200	Enhancers	Fetal Intestine Large	intestine
40	chr11:72451200-72453800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:72451200-72453800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:72451200-72454000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr11:72451400-72455600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr11:72451400-72456800	Weak transcription	NHDF-Ad	bronchial
45	chr11:72451400-72458000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr11:72451800-72453800	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr11:72451800-72453800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr11:72451800-72453800	Enhancers	NHEK	skin
49	chr11:72451800-72454000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:72451800-72454200	Enhancers	H1 Cell Line	embryonic stem cell

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