Variant report

Variant	rs56041517
Chromosome Location	chr11:5619589-5619590
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5618082..5620073-chr11:5620182..5621691,2	K562	blood:
2	11:5618985-5619995..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
3	chr11:5522829..5527225-chr11:5617678..5621647,5	K562	blood:

Variant related genes	Relation type
ENSG00000213931	Chromatin interaction
ENSG00000132256	Chromatin interaction
ENSG00000196565	Chromatin interaction
ENSG00000167355	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59525949	0.82[AFR][1000 genomes]
rs59650010	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61892491	0.83[ASN][1000 genomes]
rs72880092	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048608	chr11:5328516-5645179	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
2	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv896944	chr11:5588174-5625603	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv896945	chr11:5598864-5625603	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1054035	chr11:5604437-5620417	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv2760210	chr11:5604437-5620429	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv1048455	chr11:5609783-5655393	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
12	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
13	nsv896946	chr11:5619008-5639873	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5617200-5619800	Active TSS	A549	lung
2	chr11:5618000-5619600	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr11:5618200-5619600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr11:5618200-5619600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr11:5618200-5619600	Flanking Active TSS	Colon Smooth Muscle	Colon
6	chr11:5618200-5619600	Enhancers	Pancreas	Pancrea
7	chr11:5618200-5619600	Flanking Active TSS	Osteobl	bone
8	chr11:5618200-5621000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:5618200-5624400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:5618400-5619600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr11:5618400-5619600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:5618400-5621400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:5618400-5623800	Weak transcription	Placenta	Placenta
14	chr11:5618400-5640400	Weak transcription	Fetal Intestine Small	intestine
15	chr11:5618400-5642200	Weak transcription	Left Ventricle	heart
16	chr11:5618600-5619600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:5618600-5619600	Enhancers	Ovary	ovary
18	chr11:5618600-5619600	Enhancers	NHDF-Ad	bronchial
19	chr11:5618600-5619800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr11:5618600-5619800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:5618600-5619800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr11:5618600-5619800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr11:5618600-5620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:5618600-5620400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:5618600-5621800	Weak transcription	Fetal Heart	heart
26	chr11:5618600-5640200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:5618600-5645200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:5618800-5619600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
29	chr11:5618800-5619600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:5618800-5619600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr11:5618800-5619600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr11:5618800-5619600	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr11:5618800-5619600	Flanking Active TSS	NHLF	lung
34	chr11:5618800-5619800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:5618800-5620000	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:5619000-5619600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:5619000-5619600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:5619000-5619600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:5619000-5619600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:5619000-5619600	Enhancers	K562	blood
41	chr11:5619000-5619600	Flanking Active TSS	NH-A	brain
42	chr11:5619000-5620400	Enhancers	Dnd41	blood
43	chr11:5619000-5621800	Weak transcription	HUVEC	blood vessel
44	chr11:5619000-5623600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:5619000-5627600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr11:5619000-5629800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:5619000-5631400	Weak transcription	Fetal Intestine Large	intestine
48	chr11:5619000-5631800	Weak transcription	GM12878-XiMat	blood
49	chr11:5619200-5619600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
50	chr11:5619200-5619600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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