Variant report

Variant	rs58549917
Chromosome Location	chr21:45233667-45233668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45227444-45233850	K562	blood:	n/a	n/a
2	POLR2A	chr21:45233250-45233777	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:45233079-45233751	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr21:45232928-45233753	K562	blood:	n/a	n/a
5	EBF1	chr21:45233542-45233826	GM12878	blood:	n/a	chr21:45233581-45233590 chr21:45233581-45233590
6	POLR2A	chr21:45233618-45233763	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45233662-45233712	RPTEC	kidney:	n/a
2	chr21:45233662-45233712	Hela-S3	cervix:	n/a
3	chr21:45233662-45233712	HCF	heart:	n/a
4	chr21:45233662-45233712	HUVEC	blood vessel:	n/a
5	chr21:45233662-45233712	AG10803	skin:	n/a
6	chr21:45233662-45233712	Hepatocyte	liver:	n/a
7	chr21:45233662-45233712	HCT-116	colon:	n/a
8	chr21:45233662-45233712	GM06990	blood:	n/a
9	chr21:45233662-45233712	SAEC	small airway:	n/a
10	chr21:45233662-45233712	SK-N-SH	brain:	n/a
11	chr21:45233662-45233712	HEEpiC	esophagus:	n/a
12	chr21:45233662-45233712	ovcar-3	ovarian:	n/a
13	chr21:45233662-45233712	HL-60	blood:	n/a
14	chr21:45233662-45233712	Jurkat	blood:	n/a
15	chr21:45233662-45233712	GM12891	blood:	n/a
16	chr21:45233662-45233712	AG09319	gingival:	n/a
17	chr21:45233662-45233712	GM19239	blood:	n/a
18	chr21:45233662-45233712	PrEC	prostate:	n/a
19	chr21:45233662-45233712	H1-hESC	embryonic stem cell:	embryo
20	chr21:45233662-45233712	AG04449	skin:	fetal
21	chr21:45233662-45233712	ProgFib	skin:	n/a
22	chr21:45233662-45233712	A549	lung:	n/a
23	chr21:45233662-45233712	MCF-7	breast:	n/a
24	chr21:45233662-45233712	SK-N-SH_RA	brain:	n/a
25	chr21:45233662-45233712	GM12892	blood:	n/a
26	chr21:45233662-45233712	NH-A	brain:	n/a
27	chr21:45233662-45233712	HEK293	kidney:	embryo
28	chr21:45233662-45233712	HNPCEpiC	eye:	n/a
29	chr21:45233662-45233712	HMEC	breast:	n/a
30	chr21:45233662-45233712	NHBE	bronchial:	n/a
31	chr21:45233662-45233712	HRCEpiC	kidney:	n/a
32	chr21:45233662-45233712	NT2-D1	testis:	n/a
33	chr21:45233662-45233712	HCPEpiC	choroid plexus:	n/a
34	chr21:45233662-45233712	SKMC	muscle:	n/a
35	chr21:45233662-45233712	HAEpiC	amniotic membrane:	n/a
36	chr21:45233662-45233712	LNCaP	prostate:	n/a
37	chr21:45233662-45233712	AG04450	lung:	fetal
38	chr21:45233662-45233712	HepG2	liver:	n/a
39	chr21:45233662-45233712	BJ	skin:	n/a
40	chr21:45233662-45233712	U87	brain:	n/a
41	chr21:45233662-45233712	HRPEpiC	eye:	n/a
42	chr21:45233662-45233712	PANC-1	pancreas:	n/a
43	chr21:45233662-45233712	Caco-2	colon:	n/a
44	chr21:45233662-45233712	CMK	blood:	n/a
45	chr21:45233662-45233712	MCF10A-Er-Src	breast:	n/a
46	chr21:45233662-45233712	ECC-1	luminal epithelium:	n/a
47	chr21:45233662-45233712	BE2_C	brain:	n/a
48	chr21:45233662-45233712	AoSMC	blood vessel:	n/a
49	chr21:45233662-45233712	AG09309	skin:	n/a
50	chr21:45233662-45233712	T-47D	breast:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45210395..45213335-chr21:45233315..45235867,2	MCF-7	breast:
2	chr21:45233511..45236046-chr21:45357246..45359137,3	K562	blood:
3	chr21:45233392..45235627-chr21:45355114..45357134,2	K562	blood:
4	chr21:45202942..45205405-chr21:45231641..45234246,2	K562	blood:
5	chr21:45233461..45235454-chr21:45304310..45305936,2	K562	blood:
6	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
7	chr21:45228584..45234568-chr21:45342221..45347972,7	K562	blood:
8	chr21:45233322..45236346-chr21:45283499..45286249,3	K562	blood:
9	chr21:45233511..45237736-chr21:45356519..45359137,5	K562	blood:
10	chr21:45233535..45235177-chr21:45269820..45272571,2	MCF-7	breast:
11	chr21:45136618..45138870-chr21:45233345..45236189,2	MCF-7	breast:
12	chr21:45233457..45236060-chr21:45527747..45529523,2	MCF-7	breast:
13	chr21:45233056..45235969-chr21:45284211..45286371,2	MCF-7	breast:
14	chr21:45229703..45232642-chr21:45232746..45235107,4	MCF-7	breast:
15	chr21:45232650..45235289-chr21:45658982..45661573,2	MCF-7	breast:
16	chr21:45233269..45236576-chr21:45283514..45285914,3	MCF-7	breast:
17	chr21:45233368..45235252-chr21:45401269..45403414,2	MCF-7	breast:
18	chr21:45194765..45196421-chr21:45232951..45234586,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215458	TF binding region
ENSG00000215458	CpG island
ENSG00000160216	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000234030	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160214	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17004508	1.00[ASN][1000 genomes]
rs2838392	1.00[ASN][1000 genomes]
rs28581805	1.00[ASN][1000 genomes]
rs57435056	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58194014	1.00[ASN][1000 genomes]
rs61507797	0.83[AMR][1000 genomes]
rs743467	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8128568	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription 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	46 gene(s)	inside rSNPs	diseases
3	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats 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
6	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	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
11	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913885	chr21:45206355-45249474	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv587718	chr21:45210932-45252838	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1065007	chr21:45212880-45257959	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv544470	chr21:45212880-45257959	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
20	nsv459292	chr21:45218440-45269841	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv587719	chr21:45218440-45269841	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv522204	chr21:45220483-45246326	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv913886	chr21:45220483-45267193	Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	esv1844567	chr21:45230974-45246326	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	nsv587720	chr21:45232322-45263920	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	esv19139	chr21:45232877-45241349	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45211000-45257200	Weak transcription	Right Atrium	heart
2	chr21:45221800-45234200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr21:45224600-45234600	Weak transcription	Hela-S3	cervix
4	chr21:45224800-45234200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:45224800-45238400	Weak transcription	Aorta	Aorta
6	chr21:45226200-45234200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:45226400-45234400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr21:45226600-45234800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:45226800-45234400	Weak transcription	Brain Germinal Matrix	brain
10	chr21:45226800-45234800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr21:45229800-45237000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:45231000-45234400	Weak transcription	Fetal Brain Male	brain
13	chr21:45231200-45234200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:45231200-45234200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr21:45231200-45234200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr21:45231200-45234200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr21:45231200-45234200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr21:45231200-45234400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:45231200-45234400	Weak transcription	Pancreas	Pancrea
20	chr21:45231200-45235800	Weak transcription	Right Ventricle	heart
21	chr21:45231200-45236200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr21:45231400-45233800	Enhancers	Spleen	Spleen
23	chr21:45231400-45234600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr21:45231400-45234600	Weak transcription	Fetal Intestine Small	intestine
25	chr21:45231400-45234600	Weak transcription	K562	blood
26	chr21:45232200-45234600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr21:45232200-45236200	Enhancers	Placenta	Placenta
28	chr21:45232400-45234000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr21:45232400-45234200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr21:45232400-45234600	Weak transcription	A549	lung
31	chr21:45232400-45235600	Enhancers	Esophagus	oesophagus
32	chr21:45232600-45234200	Weak transcription	Fetal Thymus	thymus
33	chr21:45232600-45234400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr21:45232600-45234600	Weak transcription	Gastric	stomach
35	chr21:45232600-45234800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr21:45232600-45235000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr21:45232600-45235600	Enhancers	Colonic Mucosa	Colon
38	chr21:45232600-45236000	Enhancers	Stomach Mucosa	stomach
39	chr21:45232600-45237200	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr21:45232800-45234000	Weak transcription	Adipose Nuclei	Adipose
41	chr21:45232800-45234200	Weak transcription	Brain Anterior Caudate	brain
42	chr21:45232800-45234200	Weak transcription	Ovary	ovary
43	chr21:45232800-45234200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr21:45232800-45234400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr21:45232800-45234400	Weak transcription	HepG2	liver
46	chr21:45232800-45234800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:45232800-45235200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr21:45232800-45236600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr21:45232800-45236600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr21:45232800-45237000	Weak transcription	Liver	Liver

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