Variant report

Variant	rs527576199
Chromosome Location	chr21:46493292-46493293
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:61)
Chromatin interactive
region (count:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr21:46493133-46493499	GM12878	blood:	n/a	n/a
2	POLR2A	chr21:46493263-46495236	K562	blood:	n/a	n/a
3	MAX	chr21:46493074-46495782	MCF-7	breast:	n/a	n/a
4	FOXM1	chr21:46493177-46493910	MCF-7	breast:	n/a	n/a
5	HDAC2	chr21:46493137-46493874	MCF-7	breast:	n/a	n/a
6	POLR2A	chr21:46493084-46495667	K562	blood:	n/a	n/a
7	PML	chr21:46493184-46494595	MCF-7	breast:	n/a	n/a
8	POLR2A	chr21:46492515-46494487	K562	blood:	n/a	n/a
9	SIN3AK20	chr21:46493002-46494465	MCF-7	breast:	n/a	n/a
10	EGR1	chr21:46493226-46493566	K562	blood:	n/a	n/a
11	POLR2A	chr21:46492353-46497285	IMR90	lung:	n/a	n/a
12	EP300	chr21:46493045-46493928	MCF-7	breast:	n/a	chr21:46493401-46493417 chr21:46493394-46493410 chr21:46493433-46493449
13	HCFC1	chr21:46493216-46493377	K562	blood:	n/a	n/a
14	SRF	chr21:46492979-46493913	MCF-7	breast:	n/a	n/a
15	NR2F2	chr21:46493116-46494030	K562	blood:	n/a	n/a
16	CEBPD	chr21:46493246-46495249	K562	blood:	n/a	n/a
17	NR2F2	chr21:46493207-46494467	K562	blood:	n/a	n/a
18	MAZ	chr21:46492951-46495586	IMR90	lung:	n/a	n/a
19	POLR2A	chr21:46493064-46495631	K562	blood:	n/a	n/a
20	PML	chr21:46493235-46494595	MCF-7	breast:	n/a	n/a
21	HDAC2	chr21:46493286-46493545	K562	blood:	n/a	n/a
22	TEAD4	chr21:46493149-46493884	MCF-7	breast:	n/a	n/a
23	ZBTB7A	chr21:46493180-46493483	K562	blood:	n/a	n/a
24	GATA1	chr21:46493265-46493877	PBDE	blood:	n/a	n/a
25	CEBPB	chr21:46493230-46493845	MCF-7	breast:	n/a	n/a
26	NR2F2	chr21:46493008-46494466	MCF-7	breast:	n/a	n/a
27	PML	chr21:46493264-46494476	K562	blood:	n/a	n/a
28	POLR2A	chr21:46493266-46494767	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr21:46492950-46493884	SK-N-MC	brain:	n/a	n/a
30	GATA2	chr21:46493267-46494280	K562	blood:	n/a	n/a
31	CEBPD	chr21:46493291-46494448	K562	blood:	n/a	n/a
32	GATA3	chr21:46492898-46494157	MCF-7	breast:	n/a	n/a
33	GATA3	chr21:46493268-46493803	MCF-7	breast:	n/a	n/a
34	TEAD4	chr21:46493166-46494485	K562	blood:	n/a	n/a
35	TCF12	chr21:46493036-46494004	MCF-7	breast:	n/a	chr21:46493554-46493563 chr21:46493384-46493391 chr21:46493359-46493366
36	TCF12	chr21:46492820-46494243	MCF-7	breast:	n/a	chr21:46493554-46493563 chr21:46493384-46493391 chr21:46493359-46493366
37	SRF	chr21:46493165-46493826	MCF-7	breast:	n/a	n/a
38	POLR2A	chr21:46493192-46493455	ECC-1	luminal epithelium:	n/a	n/a
39	CEBPB	chr21:46493170-46493926	MCF-7	breast:	n/a	n/a
40	EGR1	chr21:46493213-46493559	K562	blood:	n/a	n/a
41	TEAD4	chr21:46493226-46494479	K562	blood:	n/a	n/a
42	GATA3	chr21:46493255-46493837	T-47D	breast:	n/a	n/a
43	ZNF217	chr21:46493257-46493807	MCF-7	breast:	n/a	n/a
44	EGR1	chr21:46493058-46493705	MCF-7	breast:	n/a	n/a
45	HDAC2	chr21:46493044-46494503	MCF-7	breast:	n/a	n/a
46	CHD1	chr21:46493137-46497321	IMR90	lung:	n/a	n/a
47	GATA2	chr21:46493211-46494998	K562	blood:	n/a	n/a
48	MAZ	chr21:46493260-46495369	K562	blood:	n/a	n/a
49	HMGN3	chr21:46493261-46495547	K562	blood:	n/a	n/a
50	TEAD4	chr21:46493237-46493879	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46493289-46493339	HPAEpiC	pulmonary alveolar:	n/a
2	chr21:46493289-46493339	T-47D	breast:	n/a
3	chr21:46493289-46493339	GM19239	blood:	n/a
4	chr21:46493289-46493339	ProgFib	skin:	n/a
5	chr21:46493289-46493339	Hepatocyte	liver:	n/a
6	chr21:46493289-46493339	H1-hESC	embryonic stem cell:	embryo
7	chr21:46493289-46493339	ECC-1	luminal epithelium:	n/a
8	chr21:46493289-46493339	HIPEpiC	eye:	n/a
9	chr21:46493289-46493339	AG09309	skin:	n/a
10	chr21:46493289-46493339	NHDF-neo	bronchial:	n/a
11	chr21:46493289-46493339	HEK293	kidney:	embryo
12	chr21:46493289-46493339	HRPEpiC	eye:	n/a
13	chr21:46493289-46493339	SK-N-SH_RA	brain:	n/a
14	chr21:46493289-46493339	K562	blood:	n/a
15	chr21:46493289-46493339	MCF10A-Er-Src	breast:	n/a
16	chr21:46493289-46493339	HL-60	blood:	n/a
17	chr21:46493289-46493339	BJ	skin:	n/a
18	chr21:46493289-46493339	A549	lung:	n/a
19	chr21:46493289-46493339	GM12891	blood:	n/a
20	chr21:46493289-46493339	HMEC	breast:	n/a
21	chr21:46493289-46493339	HRE	kidney:	n/a
22	chr21:46493289-46493339	PFSK-1	brain:	n/a
23	chr21:46493289-46493339	GM06990	blood:	n/a
24	chr21:46493289-46493339	SK-N-MC	brain:	n/a
25	chr21:46493289-46493339	AG04449	skin:	fetal
26	chr21:46493289-46493339	HAEpiC	amniotic membrane:	n/a
27	chr21:46493289-46493339	HRCEpiC	kidney:	n/a
28	chr21:46493289-46493339	U87	brain:	n/a
29	chr21:46493289-46493339	NT2-D1	testis:	n/a
30	chr21:46493289-46493339	HCM	heart:	n/a
31	chr21:46493289-46493339	GM12878	blood:	n/a
32	chr21:46493289-46493339	BE2_C	brain:	n/a
33	chr21:46493289-46493339	HNPCEpiC	eye:	n/a
34	chr21:46493289-46493339	Caco-2	colon:	n/a
35	chr21:46493289-46493339	HUVEC	blood vessel:	n/a
36	chr21:46493289-46493339	AG10803	skin:	n/a
37	chr21:46493289-46493339	Hela-S3	cervix:	n/a
38	chr21:46493289-46493339	AG04450	lung:	fetal
39	chr21:46493289-46493339	NH-A	brain:	n/a
40	chr21:46493289-46493339	HepG2	liver:	n/a
41	chr21:46493289-46493339	RPTEC	kidney:	n/a
42	chr21:46493289-46493339	HCF	heart:	n/a
43	chr21:46493289-46493339	NHBE	bronchial:	n/a
44	chr21:46493289-46493339	NB4	blood:	n/a
45	chr21:46493289-46493339	AG09319	gingival:	n/a
46	chr21:46493289-46493339	ovcar-3	ovarian:	n/a
47	chr21:46493289-46493339	SKMC	muscle:	n/a
48	chr21:46493289-46493339	Jurkat	blood:	n/a
49	chr21:46493289-46493339	GM12892	blood:	n/a
50	chr21:46493289-46493339	CMK	blood:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46354394..46357381-chr21:46492511..46494330,2	MCF-7	breast:
2	chr15:83679404..83681095-chr21:46492672..46494798,2	MCF-7	breast:
3	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
4	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
5	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
6	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
7	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
8	chr21:46292697..46294233-chr21:46492293..46494359,2	K562	blood:
9	chr21:46474279..46475026-chr21:46493041..46493703,3	MCF-7	breast:
10	chr21:46358120..46360078-chr21:46493208..46495098,2	MCF-7	breast:
11	chr21:46355061..46362857-chr21:46490375..46496482,13	K562	blood:
12	chr21:46493165..46495720-chr21:46513762..46518212,6	MCF-7	breast:
13	chr21:46493210..46496355-chr21:46960101..46962644,7	K562	blood:
14	chr21:45758282..45760774-chr21:46492663..46495375,2	K562	blood:
15	chr21:46492507..46498258-chr21:46706665..46711571,8	K562	blood:
16	chr21:46220151..46222677-chr21:46492186..46495962,3	K562	blood:
17	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
18	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
19	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
20	chr21:46492924..46497122-chr21:46547379..46551295,4	MCF-7	breast:
21	chr21:46345821..46352717-chr21:46492682..46495835,7	MCF-7	breast:
22	chr21:46292272..46294074-chr21:46492667..46495373,2	MCF-7	breast:
23	chr21:46492557..46494672-chr5:76381901..76384633,2	MCF-7	breast:
24	chr21:46329082..46330961-chr21:46492504..46494830,2	MCF-7	breast:
25	chr21:46330635..46333372-chr21:46493231..46495849,2	K562	blood:
26	chr21:46474464..46475039-chr21:46493072..46493764,2	MCF-7	breast:
27	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
28	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
29	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
30	chr21:46235651..46239241-chr21:46493223..46495632,4	MCF-7	breast:
31	chr21:46492324..46495855-chr21:46960806..46963103,3	K562	blood:
32	chr21:46493052..46496413-chr21:46547928..46550318,5	MCF-7	breast:
33	chr21:46493097..46497182-chr21:46538705..46543454,4	MCF-7	breast:
34	chr21:46411461..46416034-chr21:46491875..46495276,6	MCF-7	breast:

No data

Variant related genes	Relation type
SSR4P1	TF binding region
ENSG00000268856	TF binding region
ADARB1	TF binding region
ENSG00000268856	CpG island
ADARB1	CpG island
SSR4P1	CpG island
ENSG00000268805	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000261706	Chromatin interaction
ENSG00000250802	Chromatin interaction
ENSG00000173638	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000132846	Chromatin interaction
ENSG00000224930	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000234880	Chromatin interaction
ENSG00000186866	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000272825	Chromatin interaction
ENSG00000183255	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	esv3355416	chr21:46492024-46497122	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	esv3409662	chr21:46492949-46495497	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46475200-46493400	Weak transcription	Right Atrium	heart
2	chr21:46484600-46493400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr21:46485600-46493600	Weak transcription	Aorta	Aorta
4	chr21:46487800-46493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:46488200-46493400	Weak transcription	Primary T cells from cord blood	blood
6	chr21:46489600-46493400	Enhancers	HSMMtube	muscle
7	chr21:46489800-46493400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr21:46490200-46493400	Weak transcription	NH-A	brain
9	chr21:46490400-46493400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:46491000-46493400	Weak transcription	Brain Substantia Nigra	brain
11	chr21:46491600-46493600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr21:46492200-46493400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr21:46492400-46493600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:46492600-46493400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:46492600-46493400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:46492600-46493400	Enhancers	Placenta	Placenta
17	chr21:46492600-46493600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:46492600-46493600	Flanking Active TSS	HSMM	muscle
19	chr21:46492800-46493400	Enhancers	Fetal Lung	lung
20	chr21:46492800-46493600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr21:46492800-46493600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:46492800-46493600	Weak transcription	Gastric	stomach
23	chr21:46492800-46493600	Enhancers	Pancreas	Pancrea
24	chr21:46493000-46493400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr21:46493000-46493400	Enhancers	Primary B cells from cord blood	blood
26	chr21:46493000-46493400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr21:46493000-46493400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr21:46493000-46493400	Enhancers	Brain Cingulate Gyrus	brain
29	chr21:46493000-46493400	Enhancers	Fetal Stomach	stomach
30	chr21:46493000-46493600	Enhancers	Primary B cells from peripheral blood	blood
31	chr21:46493000-46493600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr21:46493000-46493600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:46493000-46493800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr21:46493200-46493400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr21:46493200-46493400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr21:46493200-46493400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr21:46493200-46493400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr21:46493200-46493400	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr21:46493200-46493400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr21:46493200-46493400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr21:46493200-46493400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr21:46493200-46493400	Enhancers	Adipose Nuclei	Adipose
43	chr21:46493200-46493400	Enhancers	Liver	Liver
44	chr21:46493200-46493400	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr21:46493200-46493400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr21:46493200-46493400	Enhancers	Fetal Brain Male	brain
47	chr21:46493200-46493400	Enhancers	Fetal Heart	heart
48	chr21:46493200-46493400	Enhancers	Fetal Intestine Large	intestine
49	chr21:46493200-46493400	Bivalent Enhancer	Fetal Thymus	thymus
50	chr21:46493200-46493400	Enhancers	Skeletal Muscle Male	skeletal muscle

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