Variant report

Variant	rs16976661
Chromosome Location	chr15:56282893-56282894
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56281891..56284127-chr15:56288031..56290159,2	K562	blood:
2	chr15:56282892..56284804-chr15:56387312..56388901,2	MCF-7	breast:
3	chr15:56281435..56283774-chr15:56390486..56392704,2	MCF-7	breast:
4	chr15:56282101..56284524-chr15:56536077..56539290,3	MCF-7	breast:
5	chr15:56282050..56287467-chr15:56534024..56538662,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151575	Chromatin interaction
ENSG00000181827	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12324816	0.90[AFR][1000 genomes]
rs12594988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12595720	0.82[ASW][hapmap]
rs1553739	0.82[MKK][hapmap]
rs16976592	0.88[MKK][hapmap]
rs16976638	0.82[MKK][hapmap]
rs55730141	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55951039	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56396104	0.93[ASN][1000 genomes]
rs61188362	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734396	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72734397	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72736404	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72736412	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs74015355	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949551	0.93[CEU][hapmap];0.95[GIH][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904245	chr15:56229760-56324451	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv457159	chr15:56255774-56321854	Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv569543	chr15:56255774-56321854	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv457160	chr15:56273446-56320235	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
6	nsv569544	chr15:56273446-56320235	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
7	nsv457161	chr15:56274443-56324451	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
8	nsv569545	chr15:56274443-56324451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
9	nsv569546	chr15:56274443-56337527	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56231400-56284200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr15:56248200-56285200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:56257600-56283600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr15:56257600-56283800	Weak transcription	Primary T cells from cord blood	blood
5	chr15:56272600-56284200	Weak transcription	Lung	lung
6	chr15:56273000-56283000	Weak transcription	HSMMtube	muscle
7	chr15:56274400-56283800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:56274400-56283800	Weak transcription	NH-A	brain
9	chr15:56274400-56284000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:56275400-56283000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr15:56275600-56284000	Weak transcription	Aorta	Aorta
12	chr15:56275600-56284200	Weak transcription	Left Ventricle	heart
13	chr15:56276400-56285000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:56276600-56284000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:56277000-56283600	Weak transcription	HMEC	breast
16	chr15:56277200-56284200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr15:56277400-56283000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:56277600-56283000	Weak transcription	HUVEC	blood vessel
19	chr15:56277600-56283400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:56280200-56284000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr15:56280400-56283800	Weak transcription	Dnd41	blood
22	chr15:56280400-56285200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr15:56281000-56283800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr15:56281600-56283000	Genic enhancers	Fetal Intestine Large	intestine
25	chr15:56281600-56283200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:56281600-56283600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:56281600-56283800	Strong transcription	HSMM	muscle
28	chr15:56281800-56284200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr15:56282000-56283000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:56282200-56283000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr15:56282200-56283600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:56282200-56283600	Weak transcription	Osteobl	bone
33	chr15:56282200-56284600	Weak transcription	Fetal Stomach	stomach
34	chr15:56282400-56283200	Genic enhancers	NHEK	skin
35	chr15:56282400-56283600	Enhancers	Primary hematopoietic stem cells	blood
36	chr15:56282400-56283800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr15:56282400-56284200	Weak transcription	Psoas Muscle	Psoas
38	chr15:56282600-56283000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:56282600-56283000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:56282600-56283000	Strong transcription	NHLF	lung
41	chr15:56282600-56283800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:56282600-56283800	Enhancers	Fetal Intestine Small	intestine
43	chr15:56282800-56283000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:56282800-56283000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:56282800-56283000	Enhancers	Fetal Kidney	kidney
46	chr15:56282800-56283000	Enhancers	Gastric	stomach
47	chr15:56282800-56283000	Genic enhancers	Hela-S3	cervix
48	chr15:56282800-56283000	Enhancers	K562	blood
49	chr15:56282800-56283000	Enhancers	NHDF-Ad	bronchial
50	chr15:56282800-56283200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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