Variant report

Variant	rs2838537
Chromosome Location	chr21:45683575-45683576
allele	G/T
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:1)
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	USF1	chr21:45683349-45683657	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr21:45683323-45683739	ECC-1	luminal epithelium:	n/a	n/a
3	USF1	chr21:45683292-45683656	H1-hESC	embryonic stem cell:	n/a	n/a
4	ZBTB7A	chr21:45683090-45683659	K562	blood:	n/a	n/a
5	GABPA	chr21:45683381-45683602	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB7A	chr21:45683266-45683648	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45683528-45683578	GM19239	blood:	n/a
2	chr21:45683528-45683578	U87	brain:	n/a
3	chr21:45683528-45683578	HRE	kidney:	n/a
4	chr21:45683528-45683578	AG04450	lung:	fetal
5	chr21:45683528-45683578	Hela-S3	cervix:	n/a
6	chr21:45683528-45683578	BE2_C	brain:	n/a
7	chr21:45683528-45683578	SKMC	muscle:	n/a
8	chr21:45683528-45683578	ovcar-3	ovarian:	n/a
9	chr21:45683528-45683578	HEEpiC	esophagus:	n/a
10	chr21:45683528-45683578	HL-60	blood:	n/a
11	chr21:45683528-45683578	BJ	skin:	n/a
12	chr21:45683528-45683578	GM12891	blood:	n/a
13	chr21:45683528-45683578	SAEC	small airway:	n/a
14	chr21:45683528-45683578	GM12878	blood:	n/a
15	chr21:45683528-45683578	AG04449	skin:	fetal
16	chr21:45683528-45683578	NHBE	bronchial:	n/a
17	chr21:45683528-45683578	PrEC	prostate:	n/a
18	chr21:45683528-45683578	HCF	heart:	n/a
19	chr21:45683528-45683578	T-47D	breast:	n/a
20	chr21:45683528-45683578	H1-hESC	embryonic stem cell:	embryo
21	chr21:45683528-45683578	ECC-1	luminal epithelium:	n/a
22	chr21:45683528-45683578	NHDF-neo	bronchial:	n/a
23	chr21:45683528-45683578	AG09309	skin:	n/a
24	chr21:45683528-45683578	SK-N-SH	brain:	n/a
25	chr21:45683528-45683578	HepG2	liver:	n/a
26	chr21:45683528-45683578	AG09319	gingival:	n/a
27	chr21:45683528-45683578	HEK293	kidney:	embryo
28	chr21:45683528-45683578	ProgFib	skin:	n/a
29	chr21:45683528-45683578	HMEC	breast:	n/a
30	chr21:45683528-45683578	NB4	blood:	n/a
31	chr21:45683528-45683578	HNPCEpiC	eye:	n/a
32	chr21:45683528-45683578	LNCaP	prostate:	n/a
33	chr21:45683528-45683578	HAEpiC	amniotic membrane:	n/a
34	chr21:45683528-45683578	HCM	heart:	n/a
35	chr21:45683528-45683578	IMR90	lung:	fetal
36	chr21:45683528-45683578	AoSMC	blood vessel:	n/a
37	chr21:45683528-45683578	Jurkat	blood:	n/a
38	chr21:45683528-45683578	HCT-116	colon:	n/a
39	chr21:45683528-45683578	HRCEpiC	kidney:	n/a
40	chr21:45683528-45683578	PANC-1	pancreas:	n/a
41	chr21:45683528-45683578	Hepatocyte	liver:	n/a
42	chr21:45683528-45683578	RPTEC	kidney:	n/a
43	chr21:45683528-45683578	SK-N-SH_RA	brain:	n/a
44	chr21:45683528-45683578	HRPEpiC	eye:	n/a
45	chr21:45683528-45683578	HCPEpiC	choroid plexus:	n/a
46	chr21:45683528-45683578	GM06990	blood:	n/a
47	chr21:45683528-45683578	NT2-D1	testis:	n/a
48	chr21:45683528-45683578	MCF10A-Er-Src	breast:	n/a
49	chr21:45683528-45683578	CMK	blood:	n/a
50	chr21:45683528-45683578	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:

No data

Variant related genes	Relation type
DNMT3L	TF binding region
DNMT3L	CpG island
ENSG00000141959	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2070565	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56354854	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7276937	0.88[ASN][1000 genomes]
rs7282380	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs968447	1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs968448	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer 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	61 gene(s)	inside rSNPs	diseases
10	nsv913902	chr21:45615741-45709153	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
12	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
13	nsv913904	chr21:45636881-45700641	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv913905	chr21:45640629-45696025	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv913906	chr21:45657970-45818609	Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
16	nsv531555	chr21:45665972-45757659	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
17	nsv587742	chr21:45668171-45703660	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv913907	chr21:45668171-45740823	Bivalent/Poised TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
19	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
20	nsv913908	chr21:45679090-45711202	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	esv3528069	chr21:45680724-45684322	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv3528070	chr21:45680724-45684322	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv3383742	chr21:45680874-45685572	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv3412149	chr21:45680949-45683897	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
25	nsv913909	chr21:45681153-45712588	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	nsv913910	chr21:45681153-45787250	Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	45 gene(s)	inside rSNPs	diseases
27	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
28	esv3436727	chr21:45681174-45683722	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
29	esv21044	chr21:45681654-45683665	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
30	nsv587764	chr21:45681943-45687581	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45662800-45705600	Weak transcription	Right Atrium	heart
2	chr21:45682400-45683800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:45682600-45684600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:45682800-45684000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:45683000-45683600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr21:45683000-45683600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr21:45683000-45683800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:45683000-45683800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr21:45683000-45683800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr21:45683000-45684000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr21:45683000-45684000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:45683000-45684000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr21:45683000-45684200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:45683200-45683600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr21:45683200-45683600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr21:45683200-45683600	Enhancers	Fetal Lung	lung
17	chr21:45683200-45683800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr21:45683200-45683800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr21:45683200-45683800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr21:45683200-45683800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr21:45683200-45683800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr21:45683200-45683800	Enhancers	Fetal Muscle Leg	muscle
23	chr21:45683200-45684000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr21:45683200-45684000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr21:45683200-45684000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr21:45683200-45684000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr21:45683200-45684000	Enhancers	Placenta	Placenta
28	chr21:45683200-45684000	Enhancers	Placenta Amnion	Placenta Amnion
29	chr21:45683400-45683600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:45683400-45683600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr21:45683400-45683600	Enhancers	Esophagus	oesophagus
32	chr21:45683400-45683800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr21:45683400-45683800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr21:45683400-45684000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr21:45683400-45684000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:45683400-45684000	Bivalent Enhancer	HepG2	liver

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