Variant report

Variant	rs410184
Chromosome Location	chr21:46565197-46565198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46492650..46496379-chr21:46562233..46566243,5	K562	blood:
2	chr21:46556578..46559478-chr21:46562183..46565396,3	MCF-7	breast:
3	chr21:46564726..46566629-chr21:46567122..46568782,2	K562	blood:
4	chr21:46564488..46569324-chr21:46569592..46573280,6	K562	blood:
5	chr21:46563443..46566343-chr21:46679834..46682718,2	K562	blood:
6	chr21:46560497..46564169-chr21:46565170..46570508,5	K562	blood:
7	chr21:46493052..46496379-chr21:46563543..46565903,3	K562	blood:

Variant related genes	Relation type
ENSG00000268856	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2297285	0.82[ASW][hapmap]
rs2838808	0.83[CHB][hapmap];0.92[JPT][hapmap]
rs2838817	0.83[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.88[MKK][hapmap]
rs415597	0.82[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap]
rs4819035	1.00[ASW][hapmap];0.94[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs410184	WDR4	cis	parietal	SCAN
rs410184	POFUT2	cis	cerebellum	SCAN
rs410184	LOC642852	Cis_1M	lymphoblastoid	RTeQTL
rs410184	HSF2BP	cis	parietal	SCAN

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46532600-46570600	Weak transcription	Dnd41	blood
2	chr21:46548600-46571600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr21:46549800-46567600	Weak transcription	Gastric	stomach
4	chr21:46550000-46567800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr21:46550400-46571200	Weak transcription	Brain Germinal Matrix	brain
6	chr21:46551400-46567400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:46551800-46565400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:46553400-46568600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr21:46553400-46570600	Weak transcription	Esophagus	oesophagus
10	chr21:46553400-46574600	Weak transcription	Fetal Heart	heart
11	chr21:46555200-46574600	Weak transcription	Right Atrium	heart
12	chr21:46555600-46571600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr21:46555800-46570800	Weak transcription	Fetal Lung	lung
14	chr21:46555800-46571600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr21:46556600-46581000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr21:46557000-46571400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
19	chr21:46557400-46571600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr21:46557400-46577800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr21:46557600-46573400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr21:46557600-46582600	Weak transcription	Psoas Muscle	Psoas
23	chr21:46558600-46571400	Weak transcription	Colon Smooth Muscle	Colon
24	chr21:46558600-46588800	Weak transcription	Colonic Mucosa	Colon
25	chr21:46558800-46571800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr21:46558800-46571800	Weak transcription	Fetal Intestine Large	intestine
27	chr21:46559200-46565600	Weak transcription	Primary B cells from cord blood	blood
28	chr21:46559600-46567200	Weak transcription	K562	blood
29	chr21:46560800-46578600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr21:46560800-46586400	Weak transcription	Liver	Liver
31	chr21:46561200-46571600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr21:46561400-46571600	Weak transcription	Thymus	Thymus
33	chr21:46561400-46576000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:46562000-46567400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:46562200-46567200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr21:46562200-46568600	Strong transcription	Hela-S3	cervix
37	chr21:46562800-46568400	Strong transcription	Primary B cells from peripheral blood	blood
38	chr21:46562800-46570200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr21:46562800-46571400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr21:46562800-46572600	Weak transcription	Brain Anterior Caudate	brain
41	chr21:46563000-46566000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr21:46563000-46570600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr21:46563000-46595600	Weak transcription	Pancreas	Pancrea
44	chr21:46563200-46565200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr21:46563200-46565200	Weak transcription	Osteobl	bone
46	chr21:46563200-46565600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr21:46563200-46565800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr21:46563200-46565800	Strong transcription	Fetal Intestine Small	intestine
49	chr21:46563200-46566400	Strong transcription	Aorta	Aorta
50	chr21:46563200-46567600	Weak transcription	Brain Substantia Nigra	brain

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