Variant report

Variant	rs181361421
Chromosome Location	chr21:46292834-46292835
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
2	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
3	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
4	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
5	chr19:39335285..39337048-chr21:46290079..46292955,2	MCF-7	breast:
6	chr21:46291916..46297365-chr21:46358001..46363812,14	MCF-7	breast:
7	chr21:46220413..46223818-chr21:46291771..46295209,8	K562	blood:
8	chr21:46292072..46295985-chr21:46328607..46334685,5	MCF-7	breast:
9	chr21:46280336..46283440-chr21:46291266..46293624,3	K562	blood:
10	chr21:46220930..46225769-chr21:46292170..46294469,5	K562	blood:
11	chr21:46265359..46266619-chr21:46291943..46292855,4	MCF-7	breast:
12	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
13	chr21:46219802..46220657-chr21:46291980..46292897,2	MCF-7	breast:
14	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
15	chr15:65588153..65588988-chr21:46292057..46292933,2	Hela-S3	cervix:
16	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
17	chr21:46292697..46294233-chr21:46492293..46494359,2	K562	blood:
18	chr21:46292148..46294278-chr21:46308549..46311972,5	MCF-7	breast:
19	chr21:46292272..46294074-chr21:46492667..46495373,2	MCF-7	breast:
20	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:
21	chr21:46194730..46196311-chr21:46292616..46294794,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000199568	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000269688	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000160256	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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	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
17	esv3409023	chr21:46292349-46295097	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46289800-46296000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr21:46290600-46293000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr21:46290600-46293000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr21:46290600-46293000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr21:46290600-46293000	Flanking Active TSS	HMEC	breast
6	chr21:46290600-46293000	Flanking Active TSS	K562	blood
7	chr21:46290600-46293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:46290600-46293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:46290800-46293000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr21:46291200-46293000	Bivalent/Poised TSS	HepG2	liver
11	chr21:46291200-46295200	Active TSS	Aorta	Aorta
12	chr21:46291400-46293000	Flanking Active TSS	Placenta	Placenta
13	chr21:46291600-46293000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr21:46291600-46293000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr21:46291600-46293000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr21:46291600-46293000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr21:46291600-46293000	Flanking Active TSS	Liver	Liver
18	chr21:46291600-46293000	Flanking Active TSS	Thymus	Thymus
19	chr21:46291600-46293200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr21:46291600-46293200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr21:46291600-46293200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr21:46291800-46294200	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr21:46291800-46294200	Active TSS	Fetal Intestine Large	intestine
24	chr21:46291800-46295400	Active TSS	Psoas Muscle	Psoas
25	chr21:46292000-46295000	Active TSS	Ovary	ovary
26	chr21:46292000-46295200	Active TSS	Lung	lung
27	chr21:46292200-46293000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr21:46292200-46294000	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr21:46292200-46294200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr21:46292200-46294400	Active TSS	A549	lung
31	chr21:46292200-46294600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr21:46292200-46295200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr21:46292200-46295200	Active TSS	Left Ventricle	heart
34	chr21:46292200-46295400	Active TSS	Right Atrium	heart
35	chr21:46292400-46294000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr21:46292400-46294000	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr21:46292400-46294000	Active TSS	Muscle Satellite Cultured Cells	--
38	chr21:46292400-46294000	Active TSS	HUVEC	blood vessel
39	chr21:46292400-46294200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr21:46292400-46294200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:46292400-46294200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr21:46292400-46294200	Active TSS	Hela-S3	cervix
43	chr21:46292400-46294400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr21:46292400-46294400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr21:46292400-46294400	Active TSS	Fetal Intestine Small	intestine
46	chr21:46292400-46294400	Active TSS	Small Intestine	intestine
47	chr21:46292400-46294400	Active TSS	NHDF-Ad	bronchial
48	chr21:46292400-46294400	Active TSS	NHLF	lung
49	chr21:46292400-46294600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr21:46292400-46294600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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