Variant report

Variant	rs35424917
Chromosome Location	chr21:28339928-28339929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:70)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:70 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr21:28339816-28340199	H1-hESC	embryonic stem cell:	n/a	n/a
2	GTF2F1	chr21:28339256-28340162	Hela-S3	cervix:	n/a	n/a
3	ZNF263	chr21:28337275-28340314	HEK293-T-REx	kidney:	n/a	chr21:28339984-28339993
4	POLR2A	chr21:28339126-28340271	Hela-S3	cervix:	n/a	n/a
5	KAP1	chr21:28339213-28340290	HEK293	kidney:	n/a	n/a
6	CEBPB	chr21:28339243-28339968	ECC-1	luminal epithelium:	n/a	chr21:28339723-28339736 chr21:28339723-28339734
7	TCF12	chr21:28339571-28340354	ECC-1	luminal epithelium:	n/a	n/a
8	CTCF	chr21:28339920-28340070	HEK293	kidney:	n/a	n/a
9	CEBPB	chr21:28339166-28340276	Hela-S3	cervix:	n/a	chr21:28339723-28339736 chr21:28339723-28339734
10	E2F6	chr21:28339764-28340263	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTBP2	chr21:28337395-28340331	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr21:28339795-28340200	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr21:28338986-28340316	U87	brain:	n/a	n/a
14	BRCA1	chr21:28339194-28340119	Hela-S3	cervix:	n/a	n/a
15	MXI1	chr21:28339154-28340032	Hela-S3	cervix:	n/a	n/a
16	EP300	chr21:28339166-28340342	ECC-1	luminal epithelium:	n/a	chr21:28339724-28339738
17	POLR2A	chr21:28339829-28340029	MCF10A-Er-Src	breast:	n/a	n/a
18	YY1	chr21:28339797-28340217	ECC-1	luminal epithelium:	n/a	n/a
19	CHD2	chr21:28339123-28340325	Hela-S3	cervix:	n/a	n/a
20	MAX	chr21:28339816-28340278	SK-N-SH	brain:	n/a	n/a
21	BACH1	chr21:28339306-28339930	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF7L2	chr21:28339071-28340326	Hela-S3	cervix:	n/a	n/a
23	GATA2	chr21:28339109-28340202	SH-SY5Y	brain:	n/a	chr21:28339231-28339241 chr21:28339600-28339610
24	MAZ	chr21:28339040-28340254	Hela-S3	cervix:	n/a	chr21:28339207-28339216
25	POLR2A	chr21:28338304-28340355	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr21:28339563-28339940	ECC-1	luminal epithelium:	n/a	chr21:28339723-28339736 chr21:28339723-28339734
27	MAX	chr21:28339097-28340271	ECC-1	luminal epithelium:	n/a	chr21:28339207-28339216
28	ELK1	chr21:28339806-28340256	Hela-S3	cervix:	n/a	n/a
29	RFX5	chr21:28339265-28340309	Hela-S3	cervix:	n/a	n/a
30	MAFK	chr21:28339877-28340291	Hela-S3	cervix:	n/a	n/a
31	TFAP2A	chr21:28339550-28340458	Hela-S3	cervix:	n/a	chr21:28340151-28340159 chr21:28340151-28340159 chr21:28340151-28340159 chr21:28340148-28340163
32	MYC	chr21:28339111-28339985	NB4	blood:	n/a	chr21:28339207-28339216
33	RAD21	chr21:28338419-28340293	IMR90	lung:	n/a	chr21:28339105-28339118 chr21:28339288-28339302
34	POLR2A	chr21:28339016-28340234	IMR90	lung:	n/a	n/a
35	USF2	chr21:28339291-28339987	Hela-S3	cervix:	n/a	chr21:28339371-28339387
36	SMC3	chr21:28338855-28340326	Hela-S3	cervix:	n/a	chr21:28340090-28340097 chr21:28339227-28339235
37	POLR2A	chr21:28339177-28340187	Hela-S3	cervix:	n/a	n/a
38	MAX	chr21:28339060-28340291	Hela-S3	cervix:	n/a	chr21:28339207-28339216
39	TAF1	chr21:28339694-28340090	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr21:28339042-28340038	ProgFib	skin:	n/a	n/a
41	ZNF143	chr21:28339322-28340298	Hela-S3	cervix:	n/a	chr21:28339522-28339540
42	RAD21	chr21:28339834-28340280	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr21:28339820-28339970	AG04449	skin:	n/a	n/a
44	ZKSCAN1	chr21:28339182-28340210	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr21:28339108-28340247	U87	brain:	n/a	n/a
46	POLR2A	chr21:28338990-28340302	Hela-S3	cervix:	n/a	n/a
47	GTF2F1	chr21:28339890-28340084	H1-hESC	embryonic stem cell:	n/a	n/a
48	SMARCC1	chr21:28339029-28340313	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr21:28339834-28340227	Gliobla	brain:	n/a	n/a
50	MAX	chr21:28339216-28340058	NB4	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:28339907-28339957	HL-60	blood:	n/a
2	chr21:28339907-28339957	HCF	heart:	n/a
3	chr21:28339907-28339957	Hepatocyte	liver:	n/a
4	chr21:28339907-28339957	HEK293	kidney:	embryo
5	chr21:28339907-28339957	NT2-D1	testis:	n/a
6	chr21:28339907-28339957	LNCaP	prostate:	n/a
7	chr21:28339907-28339957	ovcar-3	ovarian:	n/a
8	chr21:28339907-28339957	K562	blood:	n/a
9	chr21:28339907-28339957	HRCEpiC	kidney:	n/a
10	chr21:28339907-28339957	NH-A	brain:	n/a
11	chr21:28339907-28339957	PFSK-1	brain:	n/a
12	chr21:28339907-28339957	SK-N-SH_RA	brain:	n/a
13	chr21:28339907-28339957	RPTEC	kidney:	n/a
14	chr21:28339907-28339957	BE2_C	brain:	n/a
15	chr21:28339907-28339957	ECC-1	luminal epithelium:	n/a
16	chr21:28339907-28339957	AG04449	skin:	fetal
17	chr21:28339907-28339957	SK-N-MC	brain:	n/a
18	chr21:28339907-28339957	MCF-7	breast:	n/a
19	chr21:28339907-28339957	ProgFib	skin:	n/a
20	chr21:28339907-28339957	HIPEpiC	eye:	n/a
21	chr21:28339907-28339957	BJ	skin:	n/a
22	chr21:28339907-28339957	HPAEpiC	pulmonary alveolar:	n/a
23	chr21:28339907-28339957	HAEpiC	amniotic membrane:	n/a
24	chr21:28339907-28339957	H1-hESC	embryonic stem cell:	embryo
25	chr21:28339907-28339957	CMK	blood:	n/a
26	chr21:28339907-28339957	Jurkat	blood:	n/a
27	chr21:28339907-28339957	GM12891	blood:	n/a
28	chr21:28339907-28339957	SKMC	muscle:	n/a
29	chr21:28339907-28339957	HRE	kidney:	n/a
30	chr21:28339907-28339957	HEEpiC	esophagus:	n/a
31	chr21:28339907-28339957	AG09309	skin:	n/a
32	chr21:28339907-28339957	HCM	heart:	n/a
33	chr21:28339907-28339957	NHBE	bronchial:	n/a
34	chr21:28339907-28339957	AG04450	lung:	fetal
35	chr21:28339907-28339957	AG09319	gingival:	n/a
36	chr21:28339907-28339957	GM12878	blood:	n/a
37	chr21:28339907-28339957	HRPEpiC	eye:	n/a
38	chr21:28339907-28339957	T-47D	breast:	n/a
39	chr21:28339907-28339957	GM19239	blood:	n/a
40	chr21:28339907-28339957	AG10803	skin:	n/a
41	chr21:28339907-28339957	NHDF-neo	bronchial:	n/a
42	chr21:28339907-28339957	PANC-1	pancreas:	n/a
43	chr21:28339907-28339957	U87	brain:	n/a
44	chr21:28339907-28339957	A549	lung:	n/a
45	chr21:28339907-28339957	HCT-116	colon:	n/a
46	chr21:28339907-28339957	NB4	blood:	n/a
47	chr21:28339907-28339957	Caco-2	colon:	n/a
48	chr21:28339907-28339957	Hela-S3	cervix:	n/a
49	chr21:28339907-28339957	HMEC	breast:	n/a
50	chr21:28339907-28339957	AoSMC	blood vessel:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28339449..28341651-chr21:28350811..28353450,2	K562	blood:

No data

Variant related genes	Relation type
ADAMTS5	TF binding region
ADAMTS5	CpG island

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13046440	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13048512	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1995097	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830552	1.00[ASN][1000 genomes]
rs2830593	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830603	1.00[ASN][1000 genomes]
rs34176988	1.00[ASN][1000 genomes]
rs34663667	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34855936	0.83[ASN][1000 genomes]
rs55933916	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56356255	0.82[EUR][1000 genomes]
rs62216011	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6516749	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7281442	0.82[EUR][1000 genomes]
rs8130155	1.00[ASN][1000 genomes]
rs9977754	0.83[ASN][1000 genomes]

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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28335000-28340600	Active TSS	Ovary	ovary
2	chr21:28335200-28340600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr21:28335200-28340600	Active TSS	NHDF-Ad	bronchial
4	chr21:28335400-28340400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:28335600-28340000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
6	chr21:28335600-28340400	Active TSS	HSMM	muscle
7	chr21:28335800-28340400	Active TSS	Right Atrium	heart
8	chr21:28336400-28340000	Active TSS	Colon Smooth Muscle	Colon
9	chr21:28336400-28340400	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr21:28336800-28340400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
11	chr21:28337200-28340600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
12	chr21:28337400-28340200	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr21:28337400-28340400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr21:28337400-28340400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr21:28337400-28340600	Active TSS	NHLF	lung
16	chr21:28337400-28340800	Active TSS	Osteobl	bone
17	chr21:28337600-28340200	Active TSS	Brain Angular Gyrus	brain
18	chr21:28337600-28340400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr21:28337600-28340400	Bivalent/Poised TSS	Colonic Mucosa	Colon
20	chr21:28337600-28340400	Bivalent/Poised TSS	Fetal Stomach	stomach
21	chr21:28337600-28340400	Active TSS	HSMMtube	muscle
22	chr21:28337600-28340600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
23	chr21:28337600-28340800	Active TSS	Fetal Kidney	kidney
24	chr21:28337600-28341000	Active TSS	Hela-S3	cervix
25	chr21:28337800-28340200	Active TSS	Aorta	Aorta
26	chr21:28337800-28340200	Active TSS	Spleen	Spleen
27	chr21:28337800-28340400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr21:28337800-28340400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr21:28337800-28340400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
30	chr21:28337800-28340400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
31	chr21:28337800-28340600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr21:28337800-28340600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
33	chr21:28337800-28340600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr21:28337800-28340600	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr21:28338000-28340200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr21:28338000-28340200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr21:28338000-28340400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr21:28338000-28340400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr21:28338000-28340400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr21:28338200-28340200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:28338200-28340200	Bivalent/Poised TSS	Thymus	Thymus
42	chr21:28338400-28340000	Bivalent/Poised TSS	Fetal Thymus	thymus
43	chr21:28338400-28340200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:28338400-28340200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr21:28338400-28340200	Active TSS	Brain Cingulate Gyrus	brain
46	chr21:28338400-28340400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr21:28338400-28340400	Bivalent/Poised TSS	Fetal Lung	lung
48	chr21:28338400-28340400	Flanking Active TSS	Placenta	Placenta
49	chr21:28338400-28340600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
50	chr21:28338600-28340000	Active TSS	Esophagus	oesophagus

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