Variant report

Variant	rs62226719
Chromosome Location	chr21:45532401-45532402
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr21:45531774-45532963	IMR90	lung:	n/a	n/a
2	RCOR1	chr21:45531886-45532731	IMR90	lung:	n/a	n/a
3	RAD21	chr21:45532161-45532657	IMR90	lung:	n/a	n/a
4	MAFK	chr21:45532093-45532775	IMR90	lung:	n/a	n/a
5	CEBPB	chr21:45532384-45532691	IMR90	lung:	n/a	n/a
6	POLR2A	chr21:45532385-45532729	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45530458..45534134-chr21:45563477..45567094,3	MCF-7	breast:
2	chr21:45428790..45430380-chr21:45532009..45534360,2	K562	blood:
3	chr21:45525708..45535025-chr21:45544493..45558414,30	MCF-7	breast:

Variant related genes	Relation type
PWP2	TF binding region
ENSG00000241945	Chromatin interaction
ENSG00000160221	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs2020943	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2071144	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2071145	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2227265	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838470	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2838479	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2838484	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2838487	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838495	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838497	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28834388	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57812760	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57855582	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60503863	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61689295	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62226718	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62226722	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62226723	0.92[EUR][1000 genomes]
rs62226724	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7275501	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7282644	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73909115	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8128926	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9284512	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9306175	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9974767	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9975436	0.84[EUR][1000 genomes]
rs9977122	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9978109	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978772	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9979931	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9980021	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9982695	0.84[EUR][1000 genomes]
rs9982907	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9983551	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9983596	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv984522	chr21:45514579-45542066	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45528200-45540200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:45528200-45552800	Weak transcription	Right Atrium	heart
3	chr21:45528400-45534400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:45528400-45534400	Weak transcription	HSMMtube	muscle
5	chr21:45528400-45534600	Weak transcription	Psoas Muscle	Psoas
6	chr21:45528400-45537600	Weak transcription	Small Intestine	intestine
7	chr21:45528600-45533400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr21:45528600-45534000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:45528600-45534200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr21:45528600-45534400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:45528600-45535200	Weak transcription	NHDF-Ad	bronchial
12	chr21:45528600-45535400	Strong transcription	K562	blood
13	chr21:45528600-45536200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr21:45528600-45536200	Strong transcription	A549	lung
15	chr21:45528600-45536400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr21:45528600-45540600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr21:45528600-45551800	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr21:45528800-45532800	Strong transcription	NHEK	skin
19	chr21:45528800-45533200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:45528800-45533600	Weak transcription	Stomach Mucosa	stomach
21	chr21:45528800-45540600	Strong transcription	Fetal Muscle Leg	muscle
22	chr21:45528800-45541600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr21:45528800-45543200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr21:45528800-45551800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:45528800-45551800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr21:45528800-45552000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr21:45528800-45552000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:45528800-45552000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr21:45528800-45552200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr21:45528800-45552200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr21:45528800-45552400	Weak transcription	Fetal Heart	heart
32	chr21:45528800-45552400	Strong transcription	Fetal Intestine Small	intestine
33	chr21:45528800-45552600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr21:45529000-45532600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr21:45529000-45532600	Strong transcription	NH-A	brain
36	chr21:45529000-45532800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:45529000-45532800	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr21:45529000-45532800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr21:45529000-45533800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr21:45529000-45534000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr21:45529000-45540400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr21:45529000-45540600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr21:45529000-45547200	Strong transcription	Liver	Liver
44	chr21:45529000-45549200	Strong transcription	HepG2	liver
45	chr21:45529000-45549400	Strong transcription	HMEC	breast
46	chr21:45529000-45551000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr21:45529000-45551200	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr21:45529000-45552000	Strong transcription	Duodenum Mucosa	Duodenum
49	chr21:45529000-45552000	Strong transcription	Fetal Brain Female	brain
50	chr21:45529200-45532600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links