Variant report

Variant	rs34449239
Chromosome Location	chr21:46297370-46297371
allele	A/G
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:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46296431..46298855-chr21:46300114..46303046,3	K562	blood:
2	chr21:46231802..46234012-chr21:46295564..46298055,2	K562	blood:
3	chr21:46296431..46298316-chr21:46299911..46303046,4	K562	blood:
4	chr21:46271436..46274134-chr21:46295574..46298347,2	K562	blood:
5	chr21:46235322..46239751-chr21:46297172..46299366,5	MCF-7	breast:
6	chr21:46255862..46258104-chr21:46297344..46299707,2	K562	blood:
7	chr21:46295409..46298827-chr21:46311338..46314521,3	K562	blood:
8	chr21:46234037..46237833-chr21:46295592..46298389,4	K562	blood:
9	chr21:46296897..46299873-chr21:46358375..46361456,3	K562	blood:
10	chr21:46292609..46295460-chr21:46295899..46299289,8	K562	blood:
11	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
12	chr21:46191657..46194151-chr21:46295408..46297409,2	MCF-7	breast:
13	chr21:46297060..46299984-chr21:46306627..46308180,2	MCF-7	breast:
14	chr21:46296513..46298780-chr21:46329471..46332191,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM207A-5	chr21:46297141-46297447	NONHSAT082890

No data

Variant related genes	Relation type
ENSG00000160255	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000184900	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2282116	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs33973568	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34037159	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs34552233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34897870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753015	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4818738	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4818981	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4818982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55831723	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs57064200	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs66506615	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription 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	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers 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 miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	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
12	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv470907	chr21:46283669-46306161	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription 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	18 gene(s)	inside rSNPs	diseases
14	nsv459299	chr21:46283669-46311264	Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv459300	chr21:46283669-46311264	Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv587814	chr21:46283669-46311264	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46294400-46298600	Weak transcription	Small Intestine	intestine
2	chr21:46294800-46298200	Weak transcription	Spleen	Spleen
3	chr21:46294800-46300600	Weak transcription	Fetal Kidney	kidney
4	chr21:46295200-46299600	Weak transcription	Brain Substantia Nigra	brain
5	chr21:46295200-46300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:46295200-46301200	Weak transcription	Pancreas	Pancrea
7	chr21:46295200-46301400	Weak transcription	Lung	lung
8	chr21:46295200-46302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:46295200-46304200	Weak transcription	Esophagus	oesophagus
10	chr21:46295400-46298400	Enhancers	HepG2	liver
11	chr21:46295400-46300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr21:46295600-46297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr21:46295600-46298000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr21:46295600-46298200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr21:46295600-46298200	Weak transcription	Stomach Mucosa	stomach
16	chr21:46295600-46298200	Weak transcription	A549	lung
17	chr21:46295600-46298200	Weak transcription	NHEK	skin
18	chr21:46295600-46298400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr21:46295600-46298600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:46295600-46299600	Weak transcription	Brain Hippocampus Middle	brain
21	chr21:46295600-46299800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr21:46295600-46299800	Weak transcription	HSMMtube	muscle
23	chr21:46295600-46300200	Weak transcription	NH-A	brain
24	chr21:46295600-46300400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:46295600-46300600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr21:46295600-46300800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:46295600-46300800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
29	chr21:46295800-46299600	Weak transcription	Primary T cells from cord blood	blood
30	chr21:46295800-46300600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr21:46295800-46300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr21:46295800-46301200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr21:46295800-46301400	Weak transcription	Brain Anterior Caudate	brain
34	chr21:46295800-46303600	Enhancers	Primary B cells from cord blood	blood
35	chr21:46296000-46297600	Weak transcription	Liver	Liver
36	chr21:46296000-46297600	Weak transcription	Placenta	Placenta
37	chr21:46296000-46297600	Weak transcription	GM12878-XiMat	blood
38	chr21:46296000-46297600	Weak transcription	K562	blood
39	chr21:46296000-46297800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr21:46296000-46297800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr21:46296000-46297800	Weak transcription	Adipose Nuclei	Adipose
42	chr21:46296000-46297800	Weak transcription	Hela-S3	cervix
43	chr21:46296000-46298200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr21:46296000-46298200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr21:46296000-46299400	Enhancers	Fetal Intestine Small	intestine
46	chr21:46296000-46299600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr21:46296000-46299800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr21:46296000-46299800	Weak transcription	Fetal Thymus	thymus
49	chr21:46296000-46300000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr21:46296000-46300000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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