Variant report

Variant	rs2006694
Chromosome Location	chr21:45574588-45574589
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45573335..45575799-chr21:45659324..45661159,2	MCF-7	breast:
2	chr21:45574061..45574844-chr21:45660301..45661211,2	MCF-7	breast:
3	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
4	chr21:45572051..45574951-chr21:45759360..45761487,2	MCF-7	breast:
5	chr21:45573470..45576200-chr21:45587990..45590480,2	MCF-7	breast:
6	chr21:45574118..45574672-chr21:45616064..45616668,2	MCF-7	breast:
7	chr21:45573023..45575397-chr21:45576610..45579323,3	K562	blood:
8	chr21:45574056..45576001-chr21:45612468..45614888,2	MCF-7	breast:
9	chr21:45572891..45575841-chr21:45596465..45598354,2	MCF-7	breast:
10	chr21:45571851..45574845-chr21:45716576..45719950,3	MCF-7	breast:
11	chr21:45571719..45574629-chr21:45639760..45641612,2	MCF-7	breast:
12	chr21:45571309..45577111-chr21:45620650..45624145,5	MCF-7	breast:
13	chr21:45561894..45565955-chr21:45571282..45575871,6	MCF-7	breast:
14	chr21:45574132..45576452-chr21:45620912..45622702,2	MCF-7	breast:
15	chr21:45573267..45575463-chr21:45578748..45581310,2	MCF-7	breast:
16	chr21:45573193..45575716-chr21:45715248..45717300,2	K562	blood:
17	chr21:45573927..45576486-chr21:45579898..45582500,3	K562	blood:
18	chr21:45571301..45575033-chr21:45652281..45654701,3	MCF-7	breast:
19	chr21:45574083..45574904-chr21:45595737..45596568,4	MCF-7	breast:
20	chr21:45573655..45575237-chr21:45583026..45585364,2	MCF-7	breast:
21	chr21:45574061..45574890-chr21:45660301..45661132,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225331	Chromatin interaction
ENSG00000232124	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000160223	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1051981	0.90[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11089115	0.87[EUR][1000 genomes]
rs11700840	0.86[EUR][1000 genomes]
rs12626547	0.85[ASN][1000 genomes]
rs12626672	0.81[EUR][1000 genomes]
rs13046297	0.87[EUR][1000 genomes]
rs13047030	0.82[EUR][1000 genomes]
rs13048551	0.87[EUR][1000 genomes]
rs13048791	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs17004630	1.00[CHB][hapmap]
rs2071135	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2071154	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2187313	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2242951	0.89[ASN][1000 genomes]
rs2255955	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs2276532	0.90[CHB][hapmap];0.80[JPT][hapmap]
rs2277805	0.90[CHB][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs2299816	0.90[CHB][hapmap];0.87[JPT][hapmap]
rs2299817	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2838464	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2838469	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs2838493	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838494	0.81[EUR][1000 genomes]
rs2838498	0.81[EUR][1000 genomes]
rs2838500	0.86[EUR][1000 genomes]
rs2838502	0.86[EUR][1000 genomes]
rs2838503	0.87[EUR][1000 genomes]
rs2838504	0.87[ASN][1000 genomes]
rs2838507	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs2838508	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2838509	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2850154	0.83[EUR][1000 genomes]
rs2855653	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34708237	0.85[ASN][1000 genomes]
rs35189635	0.87[ASN][1000 genomes]
rs35524612	0.82[ASN][1000 genomes]
rs3788104	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs3788108	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4818882	0.87[EUR][1000 genomes]
rs4818884	0.87[ASN][1000 genomes]
rs4818885	0.87[ASN][1000 genomes]
rs4818886	1.00[CHB][hapmap]
rs4819361	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs4819362	0.81[CHB][hapmap]
rs4819375	1.00[CHB][hapmap];0.80[JPT][hapmap]
rs4819380	0.91[ASN][1000 genomes]
rs4819381	0.81[EUR][1000 genomes]
rs4819383	0.87[EUR][1000 genomes]
rs62226688	0.81[ASN][1000 genomes]
rs62226731	0.87[ASN][1000 genomes]
rs7279319	0.86[EUR][1000 genomes]
rs7281291	0.86[EUR][1000 genomes]
rs7282324	1.00[CHB][hapmap];0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7283870	0.87[EUR][1000 genomes]
rs7676	1.00[CHB][hapmap];0.93[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8126564	0.81[EUR][1000 genomes]
rs885872	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs965733	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs968713	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9985064	1.00[CHB][hapmap];0.87[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS 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	32 gene(s)	inside rSNPs	diseases
11	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats 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
14	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' 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
15	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
17	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
18	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
19	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
20	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
21	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2006694	PWP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
2	chr21:45563800-45574800	Weak transcription	NHLF	lung
3	chr21:45565400-45580600	Weak transcription	Brain Germinal Matrix	brain
4	chr21:45566400-45575000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr21:45570600-45577400	Enhancers	Primary B cells from cord blood	blood
6	chr21:45571000-45575400	Enhancers	Primary B cells from peripheral blood	blood
7	chr21:45571000-45582600	Weak transcription	Ovary	ovary
8	chr21:45572200-45575000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr21:45572400-45575000	Enhancers	Primary T cells from cord blood	blood
10	chr21:45572400-45577400	Enhancers	Fetal Thymus	thymus
11	chr21:45572800-45575600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr21:45572800-45577400	Enhancers	Primary hematopoietic stem cells	blood
13	chr21:45573000-45574600	Enhancers	Pancreas	Pancrea
14	chr21:45573000-45575000	Enhancers	Brain Cingulate Gyrus	brain
15	chr21:45573000-45575000	Flanking Active TSS	NHEK	skin
16	chr21:45573000-45575200	Enhancers	Fetal Muscle Trunk	muscle
17	chr21:45573000-45575200	Enhancers	Fetal Muscle Leg	muscle
18	chr21:45573000-45575400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr21:45573000-45575400	Enhancers	Thymus	Thymus
20	chr21:45573000-45575400	Enhancers	K562	blood
21	chr21:45573000-45575600	Enhancers	Lung	lung
22	chr21:45573000-45575800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:45573000-45576000	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr21:45573000-45576000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr21:45573000-45576000	Enhancers	Fetal Heart	heart
26	chr21:45573000-45576000	Enhancers	Stomach Mucosa	stomach
27	chr21:45573000-45576000	Enhancers	HMEC	breast
28	chr21:45573000-45576800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr21:45573000-45577600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr21:45573000-45579400	Enhancers	Spleen	Spleen
31	chr21:45573200-45574600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:45573200-45574600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr21:45573200-45574600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr21:45573200-45574800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr21:45573200-45575000	Weak transcription	NH-A	brain
36	chr21:45573200-45575600	Enhancers	Right Ventricle	heart
37	chr21:45573200-45575800	Enhancers	Right Atrium	heart
38	chr21:45573200-45576000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr21:45573200-45576000	Enhancers	Psoas Muscle	Psoas
40	chr21:45573200-45577200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr21:45573400-45575200	Enhancers	Brain Angular Gyrus	brain
42	chr21:45573400-45575600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr21:45573400-45575800	Enhancers	Left Ventricle	heart
44	chr21:45573400-45576800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr21:45573600-45574600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:45573600-45574600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:45573600-45574600	Weak transcription	Fetal Intestine Large	intestine
48	chr21:45573600-45574800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr21:45573600-45575000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr21:45573600-45575200	Genic enhancers	Fetal Stomach	stomach

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