Variant report

Variant	rs12627119
Chromosome Location	chr21:46453140-46453141
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46449255..46451183-chr21:46452644..46454339,2	K562	blood:
2	chr21:46445172..46447919-chr21:46452424..46454298,3	K562	blood:
3	chr21:46451994..46454639-chr21:46586058..46587723,2	K562	blood:
4	chr21:46450068..46453536-chr21:46454953..46460100,5	MCF-7	breast:
5	chr21:46451651..46453473-chr21:46473060..46475568,2	MCF-7	breast:
6	chr21:46450570..46454441-chr21:46490790..46494874,4	MCF-7	breast:
7	chr21:46432319..46434906-chr21:46450919..46453400,2	K562	blood:
8	chr21:46452367..46454538-chr21:46493648..46496547,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268856	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000235374	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12381190	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12381193	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12381201	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12481960	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12482061	0.81[ASN][1000 genomes]
rs12626512	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12627022	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2001630	0.81[ASN][1000 genomes]
rs2329949	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838754	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838755	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838756	0.80[ASN][1000 genomes]
rs55749024	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57880127	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58681776	0.81[ASN][1000 genomes]
rs60375091	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7280532	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7282172	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73228307	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73230629	0.81[ASN][1000 genomes]
rs73230630	0.81[ASN][1000 genomes]
rs869957	0.81[ASN][1000 genomes]
rs9975885	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv913977	chr21:46335761-46454391	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv913978	chr21:46335761-46466674	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913979	chr21:46335761-46472929	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv913980	chr21:46337565-46454391	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv913986	chr21:46344426-46466674	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv913987	chr21:46344426-46472929	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv913991	chr21:46356816-46472929	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv913994	chr21:46376528-46454391	Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv913995	chr21:46376528-46466674	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv913996	chr21:46383941-46459432	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv913997	chr21:46383941-46472929	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	esv1834255	chr21:46408790-46472929	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	esv1838717	chr21:46408790-46472929	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46449000-46455800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
2	chr21:46449200-46453200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:46449200-46453600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr21:46449200-46455000	Bivalent Enhancer	Fetal Stomach	stomach
5	chr21:46449200-46455200	Enhancers	Right Atrium	heart
6	chr21:46449400-46453200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr21:46449600-46453800	Weak transcription	Colon Smooth Muscle	Colon
8	chr21:46449800-46455200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr21:46449800-46455200	Enhancers	Left Ventricle	heart
10	chr21:46450400-46453200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:46450800-46453600	Weak transcription	NHDF-Ad	bronchial
12	chr21:46450800-46453800	Enhancers	Fetal Lung	lung
13	chr21:46451000-46453200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr21:46451200-46453200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:46451200-46453200	Weak transcription	HSMM	muscle
16	chr21:46451200-46453400	Enhancers	Adipose Nuclei	Adipose
17	chr21:46451400-46453400	Enhancers	Ovary	ovary
18	chr21:46451400-46453600	Weak transcription	Fetal Kidney	kidney
19	chr21:46451400-46454400	Weak transcription	Lung	lung
20	chr21:46451400-46455000	Enhancers	Right Ventricle	heart
21	chr21:46451800-46462200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:46452000-46454400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:46452200-46454400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr21:46452200-46454400	Enhancers	Placenta	Placenta
25	chr21:46452400-46453200	Enhancers	Stomach Smooth Muscle	stomach
26	chr21:46452400-46453800	Enhancers	Fetal Muscle Leg	muscle
27	chr21:46452400-46454800	Enhancers	Fetal Thymus	thymus
28	chr21:46452400-46455000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:46452400-46455200	Enhancers	Aorta	Aorta
30	chr21:46452600-46453200	Weak transcription	Spleen	Spleen
31	chr21:46452600-46453800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:46452600-46453800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:46452600-46454000	Weak transcription	Esophagus	oesophagus
34	chr21:46452600-46455200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr21:46453000-46453200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:46453000-46453400	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr21:46453000-46453400	Bivalent Enhancer	Colonic Mucosa	Colon
38	chr21:46453000-46453400	Bivalent Enhancer	Fetal Brain Male	brain
39	chr21:46453000-46453400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr21:46453000-46453600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr21:46453000-46453600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr21:46453000-46453600	Bivalent Enhancer	NHLF	lung
43	chr21:46453000-46453800	Enhancers	Muscle Satellite Cultured Cells	--
44	chr21:46453000-46453800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:46453000-46453800	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr21:46453000-46454200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr21:46453000-46455200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr21:46453000-46455200	Enhancers	Psoas Muscle	Psoas
49	chr21:46453000-46455200	Enhancers	HSMMtube	muscle
50	chr21:46453000-46455600	Enhancers	Fetal Heart	heart

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