Variant report

Variant	rs9981524
Chromosome Location	chr21:45329863-45329864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45328589..45330821-chr21:45430342..45432197,2	K562	blood:
2	chr21:45317264..45322147-chr21:45323792..45330212,11	K562	blood:
3	chr21:45311265..45313637-chr21:45328494..45330243,2	K562	blood:
4	chr21:45328806..45331467-chr21:45333310..45336234,3	MCF-7	breast:
5	chr21:45284135..45286457-chr21:45327856..45332723,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10084560	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10084623	1.00[AMR][1000 genomes]
rs11909584	1.00[AMR][1000 genomes]
rs60998087	1.00[AMR][1000 genomes]
rs9306170	1.00[AMR][1000 genomes]
rs9974773	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9977077	1.00[AMR][1000 genomes]
rs9977718	1.00[AMR][1000 genomes]
rs9981945	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9982231	1.00[AMR][1000 genomes]
rs9983454	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984820	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	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
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv19383	chr21:45326239-45334057	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
2	chr21:45305000-45332600	Weak transcription	Colon Smooth Muscle	Colon
3	chr21:45309800-45330600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr21:45314000-45330600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr21:45314400-45332000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr21:45314800-45336000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr21:45316600-45336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr21:45319600-45331200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr21:45319800-45331000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:45319800-45331800	Weak transcription	Brain Germinal Matrix	brain
11	chr21:45320000-45332400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr21:45321000-45331400	Weak transcription	Brain Substantia Nigra	brain
13	chr21:45323000-45331800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr21:45323200-45332400	Weak transcription	Hela-S3	cervix
15	chr21:45323600-45331800	Strong transcription	Fetal Stomach	stomach
16	chr21:45323800-45332000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr21:45323800-45332400	Weak transcription	HUVEC	blood vessel
18	chr21:45324000-45336000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr21:45324200-45332400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:45324400-45331400	Weak transcription	Psoas Muscle	Psoas
21	chr21:45324400-45332600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr21:45324600-45330800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:45324600-45337200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:45324800-45331200	Weak transcription	Placenta	Placenta
25	chr21:45324800-45331400	Weak transcription	Right Atrium	heart
26	chr21:45324800-45331800	Weak transcription	Aorta	Aorta
27	chr21:45324800-45332600	Weak transcription	HSMM	muscle
28	chr21:45325000-45333600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr21:45325400-45330200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr21:45325600-45330000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr21:45326000-45332000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr21:45326200-45332600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:45326200-45332800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:45326400-45332000	Weak transcription	Fetal Brain Female	brain
35	chr21:45326400-45332400	Weak transcription	Primary B cells from cord blood	blood
36	chr21:45326800-45330000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:45326800-45336600	Weak transcription	Colonic Mucosa	Colon
38	chr21:45327000-45331400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr21:45327000-45331400	Weak transcription	GM12878-XiMat	blood
40	chr21:45327200-45330400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr21:45327200-45336000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr21:45327200-45336600	Weak transcription	Ovary	ovary
43	chr21:45327400-45331600	Weak transcription	Spleen	Spleen
44	chr21:45327400-45336000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr21:45327800-45331400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr21:45327800-45332400	Genic enhancers	Fetal Intestine Small	intestine
47	chr21:45327800-45332600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr21:45328000-45330200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr21:45328000-45331400	Enhancers	Liver	Liver
50	chr21:45328000-45332400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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