Variant report

Variant	rs9980683
Chromosome Location	chr21:45604694-45604695
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45596803..45598450-chr21:45604660..45608499,3	K562	blood:
2	chr21:45604659..45607441-chr21:45758235..45760916,2	MCF-7	breast:
3	chr21:45604240..45606586-chr21:45719044..45721414,4	MCF-7	breast:
4	chr21:45603359..45606026-chr21:45717938..45720930,3	MCF-7	breast:
5	chr21:45603147..45604698-chr21:45662988..45665089,2	MCF-7	breast:
6	chr21:45604256..45606342-chr21:45755991..45757526,2	MCF-7	breast:
7	chr21:45604055..45605687-chr21:45626337..45628278,2	MCF-7	breast:
8	chr21:45604092..45606788-chr21:45665830..45668465,2	MCF-7	breast:
9	chr21:45604514..45606458-chr21:45660258..45661814,2	MCF-7	breast:
10	chr21:45596950..45600837-chr21:45603449..45606160,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232969	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000232698	Chromatin interaction
ENSG00000160226	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17004621	1.00[AMR][1000 genomes]
rs17004626	1.00[AMR][1000 genomes]
rs17004634	1.00[AMR][1000 genomes]
rs17004635	1.00[AMR][1000 genomes]
rs17004636	1.00[AMR][1000 genomes]
rs34694890	1.00[EUR][1000 genomes]
rs56687552	1.00[EUR][1000 genomes]
rs9306170	0.83[LWK][hapmap]
rs9984328	0.83[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
9	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription 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	65 gene(s)	inside rSNPs	diseases
10	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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	74 gene(s)	inside rSNPs	diseases
12	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
13	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv913899	chr21:45577102-45611950	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45593400-45605000	Weak transcription	Small Intestine	intestine
2	chr21:45593600-45604800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr21:45601400-45605000	Weak transcription	Colonic Mucosa	Colon
4	chr21:45601400-45605000	Weak transcription	Lung	lung
5	chr21:45601400-45605600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:45601600-45605000	Weak transcription	Pancreas	Pancrea
7	chr21:45602400-45604800	Weak transcription	Left Ventricle	heart
8	chr21:45602600-45604800	Weak transcription	Primary B cells from cord blood	blood
9	chr21:45602800-45612200	Weak transcription	Right Atrium	heart
10	chr21:45603200-45608200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr21:45603600-45605000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:45604200-45604800	Enhancers	Brain Hippocampus Middle	brain
13	chr21:45604200-45605400	Flanking Active TSS	HSMMtube	muscle
14	chr21:45604200-45605600	Enhancers	Brain Anterior Caudate	brain
15	chr21:45604200-45605800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:45604200-45605800	Enhancers	Placenta Amnion	Placenta Amnion
17	chr21:45604200-45606600	Enhancers	Fetal Muscle Leg	muscle
18	chr21:45604400-45604800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr21:45604400-45604800	Enhancers	Liver	Liver
20	chr21:45604400-45604800	Flanking Bivalent TSS/Enh	NHEK	skin
21	chr21:45604400-45605000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:45604400-45605000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr21:45604400-45605000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr21:45604400-45605000	Enhancers	HSMM	muscle
25	chr21:45604400-45605200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:45604400-45605200	Enhancers	Osteobl	bone
27	chr21:45604400-45605400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
28	chr21:45604400-45605400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
29	chr21:45604400-45605400	Enhancers	Fetal Thymus	thymus
30	chr21:45604400-45605400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr21:45604400-45605400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr21:45604400-45605600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr21:45604400-45605600	Enhancers	Brain Substantia Nigra	brain
34	chr21:45604400-45605600	Enhancers	HMEC	breast
35	chr21:45604400-45605600	Enhancers	HUVEC	blood vessel
36	chr21:45604400-45605600	Enhancers	NH-A	brain
37	chr21:45604400-45605800	Enhancers	Brain Angular Gyrus	brain
38	chr21:45604400-45605800	Enhancers	Esophagus	oesophagus
39	chr21:45604400-45605800	Enhancers	Gastric	stomach
40	chr21:45604400-45606000	Enhancers	Brain Cingulate Gyrus	brain
41	chr21:45604400-45606000	Enhancers	Stomach Mucosa	stomach
42	chr21:45604400-45606200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr21:45604400-45606200	Enhancers	Spleen	Spleen
44	chr21:45604400-45606800	Enhancers	GM12878-XiMat	blood
45	chr21:45604600-45604800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr21:45604600-45604800	Bivalent Enhancer	A549	lung
47	chr21:45604600-45605000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr21:45604600-45605200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr21:45604600-45605600	Enhancers	Adipose Nuclei	Adipose
50	chr21:45604600-45605600	Enhancers	Duodenum Mucosa	Duodenum

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