Variant report

Variant	rs8129438
Chromosome Location	chr21:46278912-46278913
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46267198..46269183-chr21:46277821..46280408,2	K562	blood:
2	chr21:46236704..46239538-chr21:46278622..46280942,2	K562	blood:
3	chr21:46272341..46274057-chr21:46278759..46281350,2	MCF-7	breast:
4	chr21:46272154..46279111-chr21:46289852..46295619,12	K562	blood:
5	chr21:46220602..46224333-chr21:46276246..46279137,5	MCF-7	breast:
6	chr21:46272684..46279612-chr21:46286573..46290125,9	K562	blood:
7	chr21:46273548..46279979-chr21:46290137..46294261,8	K562	blood:
8	chr21:46236115..46238070-chr21:46276155..46279056,5	MCF-7	breast:
9	chr21:46278491..46281253-chr21:46282131..46284724,2	K562	blood:
10	chr21:46275572..46279404-chr21:46280486..46283691,4	MCF-7	breast:
11	chr21:46278157..46279833-chr21:46285542..46287709,2	MCF-7	breast:
12	chr21:46278793..46281032-chr21:46359713..46361319,2	K562	blood:

No data

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2838707	1.00[MEX][hapmap]
rs2838710	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv913967	chr21:46249752-46279505	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46267400-46285200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr21:46267400-46286600	Strong transcription	Fetal Stomach	stomach
3	chr21:46267600-46280600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:46267600-46287000	Strong transcription	Brain Germinal Matrix	brain
5	chr21:46268000-46281200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:46268200-46281200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:46268200-46285800	Strong transcription	Fetal Muscle Leg	muscle
8	chr21:46268600-46279800	Strong transcription	Brain Inferior Temporal Lobe	brain
9	chr21:46268600-46280600	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr21:46268600-46280600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr21:46268600-46281800	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr21:46268600-46281800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr21:46268600-46282000	Strong transcription	Fetal Brain Female	brain
14	chr21:46268600-46285200	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr21:46268600-46285200	Strong transcription	Osteobl	bone
16	chr21:46268600-46285400	Strong transcription	Thymus	Thymus
17	chr21:46268600-46285400	Strong transcription	HUVEC	blood vessel
18	chr21:46268600-46285800	Strong transcription	Liver	Liver
19	chr21:46268600-46286000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr21:46268600-46286600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:46268800-46279800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:46268800-46285200	Strong transcription	Dnd41	blood
23	chr21:46268800-46285200	Strong transcription	NHLF	lung
24	chr21:46268800-46285400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr21:46268800-46286600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr21:46268800-46286600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr21:46268800-46286600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr21:46269200-46279800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr21:46269400-46280800	Strong transcription	Hela-S3	cervix
30	chr21:46269400-46285800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr21:46269600-46281600	Strong transcription	Pancreas	Pancrea
32	chr21:46270800-46279000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:46271400-46286800	Weak transcription	Psoas Muscle	Psoas
34	chr21:46272000-46281400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr21:46272400-46279000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:46272400-46283800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr21:46272600-46279600	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr21:46272600-46285200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr21:46272800-46281600	Strong transcription	HepG2	liver
40	chr21:46273000-46285000	Strong transcription	Duodenum Mucosa	Duodenum
41	chr21:46273000-46286600	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr21:46273400-46279400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
43	chr21:46273400-46279600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr21:46273400-46285600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr21:46273600-46279800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr21:46273600-46281600	Strong transcription	Ovary	ovary
47	chr21:46273800-46282200	Strong transcription	Rectal Smooth Muscle	rectum
48	chr21:46274000-46282000	Strong transcription	Brain Anterior Caudate	brain
49	chr21:46274000-46285000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr21:46274200-46279800	Strong transcription	A549	lung

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