Variant report

Variant	rs9637176
Chromosome Location	chr21:45294961-45294962
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45281251..45288408-chr21:45292401..45302111,14	MCF-7	breast:
2	chr21:45294560..45296839-chr21:45337509..45339121,2	K562	blood:
3	chr21:45294255..45295837-chr21:45318630..45320184,2	K562	blood:
4	chr21:45288706..45291944-chr21:45293288..45295731,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11089107	0.82[EUR][1000 genomes]
rs11702314	0.82[ASN][1000 genomes]
rs12483101	0.86[ASN][1000 genomes]
rs13047961	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13049717	0.82[ASN][1000 genomes]
rs13050512	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1573473	0.88[ASN][1000 genomes]
rs2014085	0.90[ASN][1000 genomes]
rs2070541	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2329581	0.81[ASN][1000 genomes]
rs2838429	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8128978	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8131889	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9637232	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9637233	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9976744	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][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	nsv3538	chr21:45267674-45297159	Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45286000-45300400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:45286800-45299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr21:45287000-45297600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr21:45287000-45299800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:45287000-45304200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr21:45287200-45295200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr21:45287200-45299400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:45287200-45299600	Weak transcription	NHDF-Ad	bronchial
9	chr21:45287200-45300000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:45287400-45296200	Weak transcription	Fetal Heart	heart
11	chr21:45287400-45297600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:45287400-45299400	Weak transcription	Right Atrium	heart
13	chr21:45287400-45299600	Weak transcription	Brain Substantia Nigra	brain
14	chr21:45287400-45299800	Weak transcription	Hela-S3	cervix
15	chr21:45287400-45300200	Weak transcription	HUVEC	blood vessel
16	chr21:45287400-45300200	Weak transcription	NH-A	brain
17	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
18	chr21:45287600-45299400	Weak transcription	Brain Anterior Caudate	brain
19	chr21:45287600-45299400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr21:45287600-45300000	Weak transcription	A549	lung
21	chr21:45287600-45307200	Weak transcription	Fetal Brain Male	brain
22	chr21:45288200-45300000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr21:45288200-45300200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr21:45288200-45324200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr21:45288400-45299600	Weak transcription	HMEC	breast
26	chr21:45288600-45297400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr21:45288800-45303800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr21:45289000-45299200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr21:45289400-45300600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr21:45289600-45299400	Weak transcription	Colon Smooth Muscle	Colon
31	chr21:45289800-45296000	Strong transcription	Fetal Intestine Large	intestine
32	chr21:45289800-45297800	Weak transcription	Esophagus	oesophagus
33	chr21:45289800-45297800	Weak transcription	Psoas Muscle	Psoas
34	chr21:45289800-45298000	Weak transcription	Colonic Mucosa	Colon
35	chr21:45289800-45299400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr21:45290000-45297600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr21:45290000-45299600	Strong transcription	Fetal Intestine Small	intestine
38	chr21:45290400-45298000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr21:45290800-45304200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr21:45291600-45297800	Weak transcription	Primary B cells from cord blood	blood
41	chr21:45291600-45297800	Weak transcription	Gastric	stomach
42	chr21:45291600-45299200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr21:45291600-45300200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr21:45291600-45300200	Weak transcription	Small Intestine	intestine
45	chr21:45291800-45295400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:45292400-45295000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr21:45292800-45295600	Strong transcription	K562	blood
48	chr21:45293000-45304200	Weak transcription	Fetal Lung	lung
49	chr21:45293200-45295000	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr21:45293200-45296200	Weak transcription	Left Ventricle	heart

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