Variant report

Variant	rs10896641
Chromosome Location	chr11:57545169-57545170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:57544867-57547756	H1-hESC	embryonic stem cell:	n/a	n/a
2	TCF7L2	chr11:57545052-57546347	PANC-1	pancreas:	n/a	chr11:57545145-57545154 chr11:57545143-57545157
3	TEAD4	chr11:57545162-57547397	HepG2	liver:	n/a	n/a
4	MAZ	chr11:57545066-57546835	IMR90	lung:	n/a	n/a
5	POLR2A	chr11:57545073-57547421	HepG2	liver:	n/a	n/a
6	FOXA2	chr11:57545055-57546329	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:57510237..57513047-chr11:57544366..57548086,3	MCF-7	breast:
2	chr11:57506998..57509291-chr11:57540443..57545321,4	K562	blood:
3	chr11:57544562..57546091-chr11:57553021..57555562,2	K562	blood:
4	chr11:57527377..57534826-chr11:57541861..57548775,13	MCF-7	breast:
5	chr11:57529135..57533999-chr11:57544009..57550841,10	MCF-7	breast:
6	chr11:57540282..57543092-chr11:57543604..57545694,2	K562	blood:
7	chr11:57545030..57547537-chr11:57565376..57568397,5	MCF-7	breast:
8	chr11:57517889..57520334-chr11:57544692..57547242,2	MCF-7	breast:
9	chr11:57543734..57545527-chr11:57568309..57570435,2	K562	blood:
10	chr11:57542706..57545310-chr11:57561763..57564745,3	MCF-7	breast:
11	chr11:57544135..57547056-chr11:57548257..57551353,3	K562	blood:

No data

Variant related genes	Relation type
CTNND1	TF binding region
ENSG00000211450	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000233436	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11570214	0.93[AFR][1000 genomes]
rs11570222	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284270	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1704778	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2926651	0.80[AFR][1000 genomes]
rs2926652	0.80[AFR][1000 genomes]
rs2926657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2956979	0.80[AFR][1000 genomes]
rs2969940	0.80[AFR][1000 genomes]
rs2969946	0.80[AFR][1000 genomes]
rs613152	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs620450	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs637770	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs686459	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers 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 target site	58 gene(s)	inside rSNPs	diseases
7	nsv327	chr11:57532641-57550746	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57530400-57545800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr11:57538400-57546000	Enhancers	Small Intestine	intestine
3	chr11:57538400-57549800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:57539600-57552000	Enhancers	Placenta	Placenta
5	chr11:57540200-57545600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:57541200-57545200	Enhancers	Stomach Mucosa	stomach
7	chr11:57541200-57545400	Enhancers	Right Ventricle	heart
8	chr11:57541600-57545600	Enhancers	Fetal Intestine Small	intestine
9	chr11:57541600-57545800	Enhancers	Brain Angular Gyrus	brain
10	chr11:57541600-57550400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:57541800-57545400	Enhancers	Colonic Mucosa	Colon
12	chr11:57541800-57545600	Enhancers	Spleen	Spleen
13	chr11:57541800-57545800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr11:57541800-57549000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:57542000-57545400	Enhancers	Fetal Stomach	stomach
16	chr11:57542400-57545400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:57542400-57545400	Enhancers	Brain Substantia Nigra	brain
18	chr11:57542400-57545400	Enhancers	Ovary	ovary
19	chr11:57542400-57545600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr11:57542400-57546000	Flanking Active TSS	HUVEC	blood vessel
21	chr11:57542400-57548800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:57542600-57545200	Enhancers	HMEC	breast
23	chr11:57542600-57545400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:57542600-57545400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:57542600-57545400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:57542600-57545400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:57542600-57545400	Enhancers	NHEK	skin
28	chr11:57542600-57546000	Flanking Active TSS	HSMM	muscle
29	chr11:57542600-57549200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:57542600-57550600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:57542800-57545200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr11:57542800-57545400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:57542800-57545400	Flanking Active TSS	A549	lung
34	chr11:57542800-57545400	Enhancers	NHDF-Ad	bronchial
35	chr11:57542800-57546000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr11:57542800-57546200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:57542800-57546600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:57543000-57545400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:57543000-57545600	Enhancers	Fetal Brain Female	brain
40	chr11:57543000-57546000	Flanking Active TSS	Fetal Lung	lung
41	chr11:57543000-57547200	Flanking Active TSS	Rectal Smooth Muscle	rectum
42	chr11:57543000-57547400	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr11:57543000-57547800	Enhancers	Fetal Thymus	thymus
44	chr11:57543000-57551200	Enhancers	Pancreas	Pancrea
45	chr11:57543400-57545200	Enhancers	Aorta	Aorta
46	chr11:57543400-57545200	Enhancers	Hela-S3	cervix
47	chr11:57543400-57545200	Enhancers	NH-A	brain
48	chr11:57543400-57545600	Enhancers	Fetal Intestine Large	intestine
49	chr11:57543400-57545800	Enhancers	K562	blood
50	chr11:57543400-57549000	Enhancers	Primary T cells from cord blood	blood

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