Variant report

Variant	rs2516520
Chromosome Location	chr21:45526076-45526077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45525257-45526502	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45430507..45434109-chr21:45525660..45529122,6	K562	blood:
2	chr21:45429712..45433999-chr21:45522896..45529122,10	K562	blood:
3	chr21:45525373..45527219-chr21:45757637..45759650,2	K562	blood:
4	chr21:45526020..45528445-chr21:46493573..46495387,2	K562	blood:
5	chr21:45525797..45531105-chr21:45550576..45555096,10	MCF-7	breast:
6	chr21:45443004..45445894-chr21:45525431..45527091,3	K562	blood:
7	chr21:45525933..45529754-chr21:45756924..45759975,4	MCF-7	breast:
8	chr21:45430262..45433765-chr21:45524105..45528370,12	MCF-7	breast:
9	chr21:45514673..45516174-chr21:45524050..45526937,2	MCF-7	breast:
10	chr21:45443004..45445894-chr21:45525520..45527091,2	K562	blood:
11	chr21:45525708..45535025-chr21:45544493..45558414,30	MCF-7	breast:
12	chr21:45525043..45527455-chr21:45658553..45661169,2	K562	blood:
13	chr21:45515403..45518351-chr21:45523507..45526490,2	K562	blood:
14	chr21:45430220..45433985-chr21:45525454..45528690,3	MCF-7	breast:
15	chr21:45228402..45230320-chr21:45526070..45527844,2	MCF-7	breast:

No data

Variant related genes	Relation type
PWP2	TF binding region
ENSG00000160221	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000235374	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2187314	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4818883	0.91[EUR][1000 genomes]
rs4819382	0.80[EUR][1000 genomes]
rs7282403	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	esv3322338	chr21:45526049-45528897	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 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	chr21:45473000-45526600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:45495600-45526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:45514600-45526600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:45517400-45527600	Weak transcription	Fetal Brain Male	brain
5	chr21:45518600-45526600	Weak transcription	Fetal Kidney	kidney
6	chr21:45518800-45526400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr21:45519400-45526200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr21:45519400-45526200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr21:45520200-45527600	Weak transcription	Fetal Heart	heart
10	chr21:45520400-45526600	Weak transcription	HUVEC	blood vessel
11	chr21:45522400-45526800	Weak transcription	NH-A	brain
12	chr21:45522600-45526800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:45523000-45526800	Weak transcription	Stomach Mucosa	stomach
14	chr21:45523400-45526600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:45523400-45526600	Weak transcription	HMEC	breast
16	chr21:45523600-45526400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:45523600-45526400	Weak transcription	A549	lung
18	chr21:45523600-45526600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:45523600-45526600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr21:45523600-45526800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr21:45523800-45526400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr21:45523800-45526400	Weak transcription	Brain Anterior Caudate	brain
23	chr21:45523800-45526400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr21:45523800-45526600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr21:45523800-45526600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr21:45523800-45526600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:45523800-45526600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr21:45523800-45526600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr21:45523800-45526600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr21:45523800-45526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:45523800-45526600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr21:45523800-45526600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr21:45523800-45526600	Weak transcription	Fetal Lung	lung
34	chr21:45523800-45526600	Weak transcription	Ovary	ovary
35	chr21:45523800-45526600	Weak transcription	HepG2	liver
36	chr21:45523800-45526600	Weak transcription	NHEK	skin
37	chr21:45523800-45526600	Weak transcription	NHLF	lung
38	chr21:45523800-45526800	Weak transcription	Aorta	Aorta
39	chr21:45523800-45526800	Weak transcription	Esophagus	oesophagus
40	chr21:45524000-45526400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr21:45524000-45526400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr21:45524000-45526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:45524000-45526600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr21:45524000-45526600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr21:45524000-45526600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr21:45524000-45526600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr21:45524000-45526600	Weak transcription	Brain Angular Gyrus	brain
48	chr21:45524000-45526600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr21:45524000-45526600	Weak transcription	Brain Hippocampus Middle	brain
50	chr21:45524000-45526600	Weak transcription	Brain Inferior Temporal Lobe	brain

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