Variant report

Variant	rs4819382
Chromosome Location	chr21:45566868-45566869
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:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45560677..45566873-chr21:45750837..45755413,8	K562	blood:
2	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
3	chr21:45564126..45567055-chr21:45625325..45627825,3	MCF-7	breast:
4	chr21:45565749..45567363-chr21:45612252..45614777,2	MCF-7	breast:
5	chr21:45566754..45568641-chr21:45735540..45737926,2	K562	blood:
6	chr21:45566638..45567706-chr21:45724506..45725343,6	K562	blood:
7	chr21:45566780..45567628-chr21:45687398..45688266,6	MCF-7	breast:
8	chr2:9770567..9771417-chr21:45566832..45567806,2	Hela-S3	cervix:
9	chr21:45566744..45567696-chr21:45717266..45718589,8	MCF-7	breast:
10	chr21:45566403..45567701-chr21:45716183..45718325,15	MCF-7	breast:
11	chr21:45565070..45567545-chr21:45758154..45759861,2	K562	blood:
12	chr21:45564856..45569821-chr21:45659868..45664299,6	MCF-7	breast:
13	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
14	chr21:45563311..45566975-chr21:45753410..45757143,4	K562	blood:
15	chr21:45566662..45567660-chr21:45724306..45725511,5	MCF-7	breast:
16	chr21:45566739..45567723-chr21:45686774..45688389,6	MCF-7	breast:
17	chr21:45566333..45568357-chr21:45695334..45697584,2	K562	blood:
18	chr21:45564186..45567033-chr21:45737929..45740729,2	K562	blood:
19	chr21:45564255..45569334-chr21:45585754..45591354,8	K562	blood:
20	chr21:45566699..45568772-chr21:45598220..45601195,2	K562	blood:
21	chr21:45530458..45534134-chr21:45563477..45567094,3	MCF-7	breast:
22	chr21:45564255..45567141-chr21:45748990..45751402,3	MCF-7	breast:
23	chr21:45564263..45568124-chr21:45686122..45689149,5	K562	blood:
24	chr21:45566713..45567664-chr21:45669117..45669820,2	MCF-7	breast:
25	chr21:45566744..45567741-chr21:45717194..45717765,3	K562	blood:
26	chr21:45565598..45568910-chr21:45683665..45687558,4	MCF-7	breast:
27	chr21:45553509..45556020-chr21:45565323..45568081,3	MCF-7	breast:
28	chr21:45557962..45571522-chr21:45714618..45733273,43	K562	blood:
29	chr21:45566783..45567668-chr21:45758063..45758788,2	MCF-7	breast:
30	chr21:45566230..45568537-chr21:45744712..45747553,2	K562	blood:
31	chr21:45564111..45566990-chr21:45591835..45594159,2	MCF-7	breast:
32	chr21:45566742..45569322-chr21:45613127..45615094,2	MCF-7	breast:
33	chr21:45565762..45568425-chr21:45616246..45618901,2	MCF-7	breast:
34	chr21:45564257..45567225-chr21:45749162..45751241,2	MCF-7	breast:
35	chr21:45564522..45567093-chr21:45620803..45623621,2	MCF-7	breast:
36	chr21:45565261..45567235-chr21:45752117..45754104,2	MCF-7	breast:
37	chr21:45565249..45567033-chr21:45737929..45739719,2	K562	blood:
38	chr21:45557511..45570034-chr21:45715093..45723808,43	MCF-7	breast:
39	chr21:45565601..45570300-chr21:45658772..45665940,10	MCF-7	breast:
40	chr21:45566739..45568032-chr21:45687189..45688228,8	K562	blood:
41	chr21:45557554..45558345-chr21:45566590..45567612,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000232969	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000184441	Chromatin interaction
ENSG00000241728	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000267913	Chromatin interaction
ENSG00000255902	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000232698	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1005164	1.00[CHD][hapmap]
rs2187314	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2516520	0.80[EUR][1000 genomes]
rs2838506	1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap]
rs2838535	1.00[CHD][hapmap]
rs4818883	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs6518349	1.00[CHD][hapmap]
rs7282403	1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7283041	0.89[ASW][hapmap];0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs915877	1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs9978531	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs9981086	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs9982806	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	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
13	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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
19	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
20	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

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45558200-45573000	Weak transcription	NH-A	brain
2	chr21:45559600-45572800	Weak transcription	Hela-S3	cervix
3	chr21:45559600-45573000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr21:45559600-45573000	Weak transcription	HMEC	breast
5	chr21:45559800-45567000	Weak transcription	Osteobl	bone
6	chr21:45560000-45568600	Enhancers	Primary hematopoietic stem cells	blood
7	chr21:45560200-45567200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:45560400-45573200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:45560800-45568400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr21:45561000-45567400	Enhancers	Esophagus	oesophagus
11	chr21:45561000-45573000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
13	chr21:45561200-45567000	Weak transcription	Dnd41	blood
14	chr21:45561200-45567600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr21:45561200-45574200	Weak transcription	Fetal Brain Female	brain
16	chr21:45561400-45567400	Enhancers	Adipose Nuclei	Adipose
17	chr21:45561400-45573000	Weak transcription	Small Intestine	intestine
18	chr21:45561600-45568200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr21:45561800-45567000	Weak transcription	Ovary	ovary
20	chr21:45561800-45567600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr21:45562200-45567600	Enhancers	Duodenum Mucosa	Duodenum
22	chr21:45563600-45567600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr21:45563800-45574800	Weak transcription	NHLF	lung
24	chr21:45564000-45567000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr21:45564400-45567400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr21:45564400-45568400	Enhancers	Fetal Thymus	thymus
27	chr21:45564600-45567400	Enhancers	Brain Cingulate Gyrus	brain
28	chr21:45564600-45568000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr21:45564600-45568600	Enhancers	Placenta	Placenta
30	chr21:45564800-45567000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr21:45564800-45567600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr21:45564800-45570400	Weak transcription	Psoas Muscle	Psoas
33	chr21:45565000-45567000	Weak transcription	Brain Substantia Nigra	brain
34	chr21:45565000-45567200	Weak transcription	HSMM	muscle
35	chr21:45565000-45567600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:45565000-45567800	Enhancers	Right Ventricle	heart
37	chr21:45565000-45567800	Enhancers	Spleen	Spleen
38	chr21:45565000-45568000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr21:45565000-45568400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr21:45565000-45568400	Enhancers	Colonic Mucosa	Colon
41	chr21:45565000-45573200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr21:45565200-45567000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:45565200-45567200	Weak transcription	K562	blood
44	chr21:45565200-45568000	Enhancers	Stomach Mucosa	stomach
45	chr21:45565400-45567000	Weak transcription	Fetal Lung	lung
46	chr21:45565400-45567200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr21:45565400-45567200	Enhancers	Liver	Liver
48	chr21:45565400-45573000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr21:45565400-45580600	Weak transcription	Brain Germinal Matrix	brain
50	chr21:45565600-45567200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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