Variant report

Variant	rs9976849
Chromosome Location	chr21:45613403-45613404
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	chr21:45565749..45567363-chr21:45612252..45614777,2	MCF-7	breast:
2	chr21:45574056..45576001-chr21:45612468..45614888,2	MCF-7	breast:
3	chr21:45605212..45608621-chr21:45608817..45614047,5	K562	blood:
4	chr21:45566742..45569322-chr21:45613127..45615094,2	MCF-7	breast:
5	chr21:45610715..45617377-chr21:45717031..45721978,7	MCF-7	breast:
6	chr21:45610680..45613679-chr21:45657014..45661776,5	MCF-7	breast:
7	chr21:45612553..45615742-chr21:45666296..45670643,3	MCF-7	breast:
8	chr21:45612993..45620081-chr21:45620303..45625017,17	MCF-7	breast:
9	chr21:45613209..45613813-chr21:45623826..45624382,2	NB4	blood:
10	chr21:45611519..45615384-chr21:45659181..45663993,7	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160223	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000232124	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs743476	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs743477	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs762417	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs762418	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs762419	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs874017	0.81[CEU][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	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
15	esv3411301	chr21:45609579-45620771	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv3455479	chr21:45609616-45620726	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	esv3455480	chr21:45609633-45620722	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45605400-45613800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr21:45606000-45613800	Weak transcription	Stomach Mucosa	stomach
3	chr21:45610200-45614800	Enhancers	NHLF	lung
4	chr21:45610400-45615000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr21:45610400-45615400	Enhancers	NHDF-Ad	bronchial
6	chr21:45610400-45616000	Weak transcription	Thymus	Thymus
7	chr21:45610800-45616600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:45610800-45617600	Enhancers	Placenta	Placenta
9	chr21:45611200-45613600	Weak transcription	Pancreas	Pancrea
10	chr21:45611200-45614800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:45611200-45616200	Weak transcription	Gastric	stomach
12	chr21:45611400-45614800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr21:45611600-45614600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr21:45611600-45615200	Enhancers	Colon Smooth Muscle	Colon
15	chr21:45611600-45615400	Enhancers	Brain Anterior Caudate	brain
16	chr21:45611800-45615000	Enhancers	Brain Hippocampus Middle	brain
17	chr21:45611800-45615000	Enhancers	Brain Substantia Nigra	brain
18	chr21:45612000-45613600	Enhancers	NH-A	brain
19	chr21:45612000-45614200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr21:45612000-45614200	Enhancers	Hela-S3	cervix
21	chr21:45612000-45614600	Enhancers	K562	blood
22	chr21:45612000-45615000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:45612000-45616200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr21:45612200-45614200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr21:45612200-45614600	Enhancers	HSMM	muscle
26	chr21:45612200-45615800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr21:45612200-45617200	Enhancers	Fetal Muscle Leg	muscle
28	chr21:45612400-45614200	Enhancers	Fetal Intestine Small	intestine
29	chr21:45612400-45614400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:45612400-45614800	Enhancers	Duodenum Mucosa	Duodenum
31	chr21:45612400-45614800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr21:45612400-45615000	Enhancers	Ovary	ovary
33	chr21:45612400-45615000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr21:45612400-45615600	Enhancers	Fetal Stomach	stomach
35	chr21:45612400-45616400	Weak transcription	Esophagus	oesophagus
36	chr21:45612600-45613600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr21:45612600-45613600	Weak transcription	Right Atrium	heart
38	chr21:45612600-45613800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr21:45612600-45613800	Weak transcription	Spleen	Spleen
40	chr21:45612600-45615400	Enhancers	Fetal Lung	lung
41	chr21:45612600-45616000	Enhancers	Fetal Muscle Trunk	muscle
42	chr21:45612600-45616400	Weak transcription	Right Ventricle	heart
43	chr21:45612800-45613800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr21:45612800-45613800	Weak transcription	Brain Angular Gyrus	brain
45	chr21:45612800-45614000	Weak transcription	Fetal Thymus	thymus
46	chr21:45612800-45614600	Weak transcription	Lung	lung
47	chr21:45612800-45615400	Enhancers	Adipose Nuclei	Adipose
48	chr21:45612800-45616000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr21:45612800-45616000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr21:45612800-45616000	Weak transcription	Left Ventricle	heart

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