Variant report

Variant	rs61689295
Chromosome Location	chr21:45535510-45535511
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	POLR2A	chr21:45535345-45535988	GM12878	blood:	n/a	n/a
2	POLR2A	chr21:45535487-45535558	K562	blood:	n/a	n/a
3	POLR2A	chr21:45535334-45536228	K562	blood:	n/a	n/a
4	POLR2A	chr21:45535468-45535670	GM12878	blood:	n/a	n/a
5	POLR2A	chr21:45535455-45535650	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45534418..45538014-chr21:45538114..45543623,8	MCF-7	breast:
2	chr21:45227343..45230131-chr21:45535363..45538238,2	K562	blood:
3	chr21:45534290..45536622-chr21:45758168..45760821,2	MCF-7	breast:
4	chr21:45515970..45519529-chr21:45533153..45535731,3	K562	blood:

Variant related genes	Relation type
PWP2	TF binding region
ENSG00000241945	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000160218	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	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2071144	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071145	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2227265	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2838470	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2838479	0.84[EUR][1000 genomes]
rs2838484	0.92[EUR][1000 genomes]
rs2838487	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2838495	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2838497	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28834388	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57812760	0.92[EUR][1000 genomes]
rs57855582	0.95[ASN][1000 genomes]
rs60503863	0.92[EUR][1000 genomes]
rs62226718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62226719	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62226722	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62226723	1.00[EUR][1000 genomes]
rs62226724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7275501	0.92[EUR][1000 genomes]
rs7282644	0.92[EUR][1000 genomes]
rs73909115	0.92[EUR][1000 genomes]
rs8128926	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9284512	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9306175	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9974767	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9975436	0.92[EUR][1000 genomes]
rs9977122	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9978109	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9978772	0.92[EUR][1000 genomes]
rs9979931	0.92[EUR][1000 genomes]
rs9980021	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9982695	0.92[EUR][1000 genomes]
rs9982907	0.92[EUR][1000 genomes]
rs9983551	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9983596	0.92[EUR][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	chr21:45528400-45537600	Weak transcription	Small Intestine	intestine
4	chr21:45528600-45536200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr21:45528600-45536200	Strong transcription	A549	lung
6	chr21:45528600-45536400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr21:45528600-45540600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr21:45528600-45551800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr21:45528800-45540600	Strong transcription	Fetal Muscle Leg	muscle
10	chr21:45528800-45541600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr21:45528800-45543200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:45528800-45551800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:45528800-45551800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr21:45528800-45552000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr21:45528800-45552000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr21:45528800-45552000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr21:45528800-45552200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:45528800-45552200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:45528800-45552400	Weak transcription	Fetal Heart	heart
20	chr21:45528800-45552400	Strong transcription	Fetal Intestine Small	intestine
21	chr21:45528800-45552600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr21:45529000-45540400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr21:45529000-45540600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:45529000-45547200	Strong transcription	Liver	Liver
25	chr21:45529000-45549200	Strong transcription	HepG2	liver
26	chr21:45529000-45549400	Strong transcription	HMEC	breast
27	chr21:45529000-45551000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:45529000-45551200	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr21:45529000-45552000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr21:45529000-45552000	Strong transcription	Fetal Brain Female	brain
31	chr21:45529200-45536200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr21:45529200-45536400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:45529200-45536600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr21:45529200-45540200	Strong transcription	Placenta	Placenta
35	chr21:45529200-45540200	Strong transcription	Lung	lung
36	chr21:45529200-45540400	Strong transcription	Adipose Nuclei	Adipose
37	chr21:45529200-45540600	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr21:45529200-45551200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr21:45529200-45551200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr21:45529200-45551400	Strong transcription	Ovary	ovary
41	chr21:45529200-45551800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr21:45529200-45551800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr21:45529200-45551800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr21:45529200-45552000	Strong transcription	Brain Germinal Matrix	brain
45	chr21:45529200-45552000	Strong transcription	Left Ventricle	heart
46	chr21:45529400-45536600	Strong transcription	Fetal Thymus	thymus
47	chr21:45529400-45537400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:45529400-45540600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr21:45529400-45551000	Strong transcription	Primary T cells from cord blood	blood
50	chr21:45529400-45551200	Strong transcription	Muscle Satellite Cultured Cells	--

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