Variant report

Variant	rs8131889
Chromosome Location	chr21:45306100-45306101
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45284340..45286488-chr21:45304112..45307404,3	MCF-7	breast:
2	chr21:45304193..45306712-chr21:45430262..45432762,4	K562	blood:
3	chr21:45305766..45308236-chr21:45323857..45326352,2	K562	blood:
4	chr21:45305650..45307463-chr21:45319282..45321366,2	MCF-7	breast:
5	chr21:45302842..45306641-chr21:45335649..45338345,3	K562	blood:
6	chr21:45302997..45306712-chr21:45430942..45432762,3	K562	blood:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11089107	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11702314	0.82[ASN][1000 genomes]
rs12483101	0.85[ASN][1000 genomes]
rs13047961	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13049717	0.82[ASN][1000 genomes]
rs13050512	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1573473	0.88[ASN][1000 genomes]
rs2014085	0.90[ASN][1000 genomes]
rs2070541	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2329581	0.80[ASN][1000 genomes]
rs2838429	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8128978	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9637176	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9637232	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9637233	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9976744	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:109 , 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	chr21:45287600-45307200	Weak transcription	Fetal Brain Male	brain
3	chr21:45288200-45324200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr21:45298400-45312600	Weak transcription	Aorta	Aorta
5	chr21:45298600-45312800	Weak transcription	Primary B cells from cord blood	blood
6	chr21:45300600-45316400	Weak transcription	A549	lung
7	chr21:45300800-45312200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr21:45300800-45312800	Weak transcription	Psoas Muscle	Psoas
9	chr21:45300800-45312800	Weak transcription	Osteobl	bone
10	chr21:45300800-45313200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr21:45301000-45328400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr21:45301400-45312000	Weak transcription	HSMMtube	muscle
13	chr21:45301400-45313400	Weak transcription	HSMM	muscle
14	chr21:45301400-45326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:45303200-45307000	Weak transcription	Dnd41	blood
16	chr21:45303400-45313400	Weak transcription	Thymus	Thymus
17	chr21:45303400-45319000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr21:45304000-45306200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr21:45304000-45313800	Weak transcription	NHLF	lung
20	chr21:45304200-45306600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:45304200-45307000	Enhancers	Brain Hippocampus Middle	brain
22	chr21:45304400-45306200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr21:45304400-45312600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr21:45304400-45313000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr21:45304600-45309000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr21:45304600-45309200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:45304800-45307000	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr21:45304800-45307200	Weak transcription	Primary T cells from cord blood	blood
29	chr21:45304800-45309200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr21:45304800-45309200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr21:45304800-45309400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr21:45304800-45309400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr21:45304800-45312600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr21:45304800-45322200	Weak transcription	Hela-S3	cervix
35	chr21:45304800-45323200	Weak transcription	Colonic Mucosa	Colon
36	chr21:45305000-45307200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:45305000-45309000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr21:45305000-45309000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr21:45305000-45309200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr21:45305000-45309200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr21:45305000-45309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr21:45305000-45312600	Weak transcription	HUVEC	blood vessel
43	chr21:45305000-45313400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr21:45305000-45313800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr21:45305000-45322800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr21:45305000-45328000	Weak transcription	NHEK	skin
47	chr21:45305000-45332600	Weak transcription	Colon Smooth Muscle	Colon
48	chr21:45305200-45306200	Enhancers	Right Atrium	heart
49	chr21:45305200-45306600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr21:45305200-45307000	Weak transcription	Fetal Stomach	stomach

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