Variant report

Variant	rs9979908
Chromosome Location	chr21:45618226-45618227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45565762..45568425-chr21:45616246..45618901,2	MCF-7	breast:
2	chr21:45615189..45618434-chr21:45625221..45628569,5	MCF-7	breast:
3	chr21:45614676..45619255-chr21:45657692..45665676,14	MCF-7	breast:
4	chr21:45612993..45620081-chr21:45620303..45625017,17	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160223	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000232698	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs45493992	1.00[EUR][1000 genomes]
rs61737085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73374050	1.00[EUR][1000 genomes]
rs9653782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9975520	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
14	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
15	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
16	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
17	nsv913901	chr21:45615741-45665330	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv913902	chr21:45615741-45709153	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
19	esv3529214	chr21:45617222-45622747	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	esv3455399	chr21:45617324-45622622	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
21	nsv587723	chr21:45617328-45620705	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	esv994385	chr21:45617619-45623578	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45614800-45622400	Weak transcription	Pancreas	Pancrea
2	chr21:45615000-45623200	Weak transcription	Brain Hippocampus Middle	brain
3	chr21:45615400-45622200	Weak transcription	Fetal Lung	lung
4	chr21:45616600-45619400	Weak transcription	Stomach Mucosa	stomach
5	chr21:45616600-45622000	Weak transcription	Lung	lung
6	chr21:45616600-45622200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:45616600-45622200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr21:45616800-45621600	Weak transcription	Esophagus	oesophagus
9	chr21:45616800-45622000	Weak transcription	Left Ventricle	heart
10	chr21:45616800-45622200	Weak transcription	Fetal Intestine Small	intestine
11	chr21:45616800-45622200	Weak transcription	Spleen	Spleen
12	chr21:45616800-45626600	Weak transcription	Thymus	Thymus
13	chr21:45617000-45622400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr21:45617000-45626000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr21:45617200-45619400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr21:45617200-45622200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr21:45617200-45622600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:45617200-45623200	Weak transcription	GM12878-XiMat	blood
19	chr21:45617200-45624000	Weak transcription	Gastric	stomach
20	chr21:45617200-45626200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr21:45617400-45622400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr21:45617400-45622400	Weak transcription	Right Atrium	heart
23	chr21:45617400-45622600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr21:45617400-45622600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr21:45617400-45622600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr21:45617400-45622600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:45617400-45624200	Weak transcription	Brain Substantia Nigra	brain
28	chr21:45617400-45624200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr21:45617400-45626000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr21:45617600-45618600	Weak transcription	Colonic Mucosa	Colon
31	chr21:45617600-45622000	Weak transcription	Right Ventricle	heart
32	chr21:45617600-45622200	Weak transcription	Primary B cells from cord blood	blood
33	chr21:45617600-45622200	Weak transcription	K562	blood
34	chr21:45617600-45622400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr21:45618000-45622000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr21:45618000-45622000	Weak transcription	Fetal Muscle Leg	muscle

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