Variant report

Variant	rs8128926
Chromosome Location	chr21:45559693-45559694
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	chr21:45558332..45559872-chr21:45661024..45663841,2	MCF-7	breast:
2	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
3	chr21:45557344..45559902-chr21:45666476..45668676,2	MCF-7	breast:
4	chr21:45558306..45561463-chr21:45708523..45710910,3	K562	blood:
5	chr21:45558413..45560351-chr21:45571798..45574177,2	MCF-7	breast:
6	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
7	chr21:45557116..45559735-chr21:45615528..45618206,3	MCF-7	breast:
8	chr21:45557962..45571522-chr21:45714618..45733273,43	K562	blood:
9	chr21:45559595..45561222-chr21:45756601..45758577,2	K562	blood:
10	chr21:45557511..45570034-chr21:45715093..45723808,43	MCF-7	breast:
11	chr21:45228080..45230835-chr21:45557353..45560297,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160226	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000160224	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1005045	0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11089116	0.83[ASN][1000 genomes]
rs11910604	1.00[JPT][hapmap]
rs12627273	0.83[ASN][1000 genomes]
rs2020943	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071144	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2071145	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2227265	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838465	1.00[JPT][hapmap]
rs2838470	1.00[CEU][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs2838479	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes]
rs2838484	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838487	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2838495	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838497	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2838510	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs28834388	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57812760	0.84[EUR][1000 genomes]
rs57855582	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60503863	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60503889	0.83[ASN][1000 genomes]
rs61689295	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62226718	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62226719	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62226722	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62226723	0.92[EUR][1000 genomes]
rs62226724	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7275501	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7275572	0.83[ASN][1000 genomes]
rs7275654	0.83[ASN][1000 genomes]
rs7282644	0.84[EUR][1000 genomes]
rs73909115	0.84[EUR][1000 genomes]
rs878132	1.00[JPT][hapmap]
rs9284512	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9306175	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9974767	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9975436	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9977122	0.84[EUR][1000 genomes]
rs9978109	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9978772	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs9979931	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9980021	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9980063	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9982695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9982907	0.84[EUR][1000 genomes]
rs9983551	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9983596	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45554000-45563400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45554400-45561200	Genic enhancers	Fetal Muscle Trunk	muscle
3	chr21:45555000-45561200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr21:45555200-45559800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:45555200-45560400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr21:45555200-45560800	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr21:45555200-45561200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr21:45555200-45561200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr21:45555200-45561200	Genic enhancers	Spleen	Spleen
10	chr21:45555400-45560200	Genic enhancers	Duodenum Mucosa	Duodenum
11	chr21:45555400-45560200	Genic enhancers	Right Ventricle	heart
12	chr21:45555400-45560600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr21:45555400-45560800	Weak transcription	Small Intestine	intestine
14	chr21:45555400-45561000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:45555400-45561200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:45555600-45560400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr21:45555600-45560600	Genic enhancers	Placenta	Placenta
18	chr21:45555800-45559800	Strong transcription	Osteobl	bone
19	chr21:45555800-45560800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr21:45555800-45561000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr21:45555800-45561200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr21:45555800-45561200	Strong transcription	Fetal Brain Female	brain
23	chr21:45556000-45560400	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr21:45556000-45560400	Genic enhancers	Liver	Liver
25	chr21:45556000-45560600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:45556000-45561000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr21:45556000-45561000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:45556400-45561400	Genic enhancers	Fetal Muscle Leg	muscle
29	chr21:45556600-45560800	Genic enhancers	Brain Hippocampus Middle	brain
30	chr21:45556800-45560000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr21:45556800-45560800	Genic enhancers	Pancreas	Pancrea
32	chr21:45557000-45559800	Genic enhancers	Lung	lung
33	chr21:45557200-45559800	Genic enhancers	Colon Smooth Muscle	Colon
34	chr21:45557200-45561200	Genic enhancers	Fetal Thymus	thymus
35	chr21:45557400-45561800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr21:45557600-45559800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr21:45557600-45561800	Genic enhancers	Fetal Stomach	stomach
38	chr21:45557800-45559800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
39	chr21:45557800-45559800	Weak transcription	Fetal Kidney	kidney
40	chr21:45557800-45560400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr21:45558000-45559800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr21:45558000-45559800	Strong transcription	HepG2	liver
43	chr21:45558000-45560000	Strong transcription	K562	blood
44	chr21:45558000-45560400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr21:45558000-45561200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr21:45558000-45566200	Enhancers	Left Ventricle	heart
47	chr21:45558200-45559800	Enhancers	HSMMtube	muscle
48	chr21:45558200-45560000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:45558200-45560000	Weak transcription	NHDF-Ad	bronchial
50	chr21:45558200-45560400	Strong transcription	Fetal Intestine Large	intestine

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