Variant report

Variant	rs1964982
Chromosome Location	chr21:45211607-45211608
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45209410..45212282-chr21:45284427..45288210,3	K562	blood:
2	chr21:45211176..45213264-chr21:45216174..45218392,2	MCF-7	breast:
3	chr21:45210899..45216228-chr21:45227595..45230862,5	MCF-7	breast:
4	chr21:45138427..45140484-chr21:45209568..45212113,2	K562	blood:
5	chr21:45136894..45141532-chr21:45205840..45211872,8	MCF-7	breast:
6	chr21:45210542..45212642-chr21:45354588..45357125,2	K562	blood:
7	chr21:45209499..45211079-chr21:45211253..45212783,2	MCF-7	breast:
8	chr21:45209348..45212282-chr21:45284427..45288210,4	K562	blood:
9	chr21:45209429..45212325-chr21:45284308..45286024,2	MCF-7	breast:
10	chr21:45138000..45143848-chr21:45206375..45212489,9	MCF-7	breast:
11	chr21:45137509..45139216-chr21:45209353..45211646,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160209	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000160214	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11701439	0.82[EUR][1000 genomes]
rs12483706	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13052408	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1573334	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1573335	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1573336	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2070537	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2070539	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2186927	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2276246	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838368	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838372	0.84[AMR][1000 genomes]
rs2838375	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2838384	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2838393	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28648592	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35190140	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3819599	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4818867	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57786602	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6518323	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7278524	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8132884	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs880987	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	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
9	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	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
11	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	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
13	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913885	chr21:45206355-45249474	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv587718	chr21:45210932-45252838	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1964982	CSTB	cis	Muscle Skeletal	GTEx
rs1964982	CSTB	cis	Nerve Tibial	GTEx
rs1964982	CSTB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45210200-45212400	Weak transcription	Aorta	Aorta
2	chr21:45210400-45211800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr21:45210400-45211800	Weak transcription	HSMMtube	muscle
4	chr21:45210400-45216600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr21:45210400-45221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr21:45210600-45211800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:45210600-45211800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr21:45210600-45211800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr21:45210800-45211800	Weak transcription	Fetal Kidney	kidney
10	chr21:45210800-45211800	Weak transcription	HSMM	muscle
11	chr21:45210800-45212200	Genic enhancers	Primary T cells fromperipheralblood	blood
12	chr21:45210800-45213600	Genic enhancers	Brain Germinal Matrix	brain
13	chr21:45210800-45214000	Weak transcription	Psoas Muscle	Psoas
14	chr21:45210800-45216200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr21:45211000-45211800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:45211000-45211800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr21:45211000-45211800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr21:45211000-45211800	Genic enhancers	Lung	lung
19	chr21:45211000-45211800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr21:45211000-45212000	Weak transcription	Colon Smooth Muscle	Colon
21	chr21:45211000-45212800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr21:45211000-45214200	Strong transcription	NH-A	brain
23	chr21:45211000-45215400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:45211000-45215400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:45211000-45215400	Strong transcription	NHLF	lung
26	chr21:45211000-45215600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr21:45211000-45217600	Strong transcription	NHDF-Ad	bronchial
28	chr21:45211000-45219200	Weak transcription	Fetal Heart	heart
29	chr21:45211000-45223200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:45211000-45224200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr21:45211000-45224200	Strong transcription	Osteobl	bone
32	chr21:45211000-45224800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr21:45211000-45224800	Strong transcription	Brain Hippocampus Middle	brain
34	chr21:45211000-45224800	Strong transcription	Placenta	Placenta
35	chr21:45211000-45226200	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr21:45211000-45226200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr21:45211000-45226600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr21:45211000-45226600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr21:45211000-45229200	Strong transcription	Fetal Intestine Small	intestine
40	chr21:45211000-45230400	Weak transcription	Stomach Mucosa	stomach
41	chr21:45211000-45257200	Weak transcription	Right Atrium	heart
42	chr21:45211200-45211800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr21:45211200-45211800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr21:45211200-45211800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr21:45211200-45211800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr21:45211200-45211800	Active TSS	GM12878-XiMat	blood
47	chr21:45211200-45211800	Weak transcription	HUVEC	blood vessel
48	chr21:45211200-45212000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:45211200-45212200	Weak transcription	Primary B cells from cord blood	blood
50	chr21:45211200-45212800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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