Variant report

Variant	rs1039144
Chromosome Location	chr21:28340196-28340197
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	ZNF263	chr21:28337275-28340314	HEK293-T-REx	kidney:	n/a	chr21:28339984-28339993
3	POLR2A	chr21:28339126-28340271	Hela-S3	cervix:	n/a	n/a
4	KAP1	chr21:28339213-28340290	HEK293	kidney:	n/a	n/a
5	REST	chr21:28339965-28340220	Hela-S3	cervix:	n/a	n/a
6	TCF12	chr21:28339571-28340354	ECC-1	luminal epithelium:	n/a	n/a
7	CEBPB	chr21:28339166-28340276	Hela-S3	cervix:	n/a	chr21:28339723-28339736 chr21:28339723-28339734
8	E2F6	chr21:28339764-28340263	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr21:28337395-28340331	H1-hESC	embryonic stem cell:	n/a	n/a
10	RAD21	chr21:28339795-28340200	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr21:28338986-28340316	U87	brain:	n/a	n/a
12	EP300	chr21:28339166-28340342	ECC-1	luminal epithelium:	n/a	chr21:28339724-28339738
13	YY1	chr21:28339797-28340217	ECC-1	luminal epithelium:	n/a	n/a
14	CHD2	chr21:28339123-28340325	Hela-S3	cervix:	n/a	n/a
15	MAX	chr21:28339816-28340278	SK-N-SH	brain:	n/a	n/a
16	TCF7L2	chr21:28339071-28340326	Hela-S3	cervix:	n/a	n/a
17	HDAC2	chr21:28339933-28340250	H1-hESC	embryonic stem cell:	n/a	n/a
18	GATA2	chr21:28339109-28340202	SH-SY5Y	brain:	n/a	chr21:28339231-28339241 chr21:28339600-28339610
19	MAZ	chr21:28339040-28340254	Hela-S3	cervix:	n/a	chr21:28339207-28339216
20	REST	chr21:28339963-28340205	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr21:28338304-28340355	Hela-S3	cervix:	n/a	n/a
22	MAX	chr21:28339097-28340271	ECC-1	luminal epithelium:	n/a	chr21:28339207-28339216
23	ELK1	chr21:28339806-28340256	Hela-S3	cervix:	n/a	n/a
24	RFX5	chr21:28339265-28340309	Hela-S3	cervix:	n/a	n/a
25	MAFK	chr21:28339877-28340291	Hela-S3	cervix:	n/a	n/a
26	TFAP2A	chr21:28339550-28340458	Hela-S3	cervix:	n/a	chr21:28340151-28340159 chr21:28340151-28340159 chr21:28340151-28340159 chr21:28340148-28340163
27	RAD21	chr21:28338419-28340293	IMR90	lung:	n/a	chr21:28339105-28339118 chr21:28339288-28339302
28	CTCF	chr21:28339944-28340212	IMR90	lung:	n/a	n/a
29	POLR2A	chr21:28339016-28340234	IMR90	lung:	n/a	n/a
30	SMC3	chr21:28338855-28340326	Hela-S3	cervix:	n/a	chr21:28340090-28340097 chr21:28339227-28339235
31	CTCF	chr21:28340060-28340210	AG04449	skin:	n/a	n/a
32	MAX	chr21:28339060-28340291	Hela-S3	cervix:	n/a	chr21:28339207-28339216
33	ZNF143	chr21:28339322-28340298	Hela-S3	cervix:	n/a	chr21:28339522-28339540
34	RAD21	chr21:28339834-28340280	H1-hESC	embryonic stem cell:	n/a	n/a
35	HA-E2F1	chr21:28339934-28340329	Hela-S3	cervix:	n/a	n/a
36	ZKSCAN1	chr21:28339182-28340210	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr21:28340060-28340210	SK-N-SH_RA	brain:	n/a	n/a
38	POLR2A	chr21:28339108-28340247	U87	brain:	n/a	n/a
39	POLR2A	chr21:28338990-28340302	Hela-S3	cervix:	n/a	n/a
40	SMARCC1	chr21:28339029-28340313	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr21:28339834-28340227	Gliobla	brain:	n/a	n/a
42	E2F6	chr21:28337508-28340301	H1-hESC	embryonic stem cell:	n/a	chr21:28339125-28339137
43	TBP	chr21:28339247-28340233	Hela-S3	cervix:	n/a	n/a
44	RAD21	chr21:28339900-28340224	SK-N-SH_RA	brain:	n/a	n/a
45	RCOR1	chr21:28339077-28340284	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr21:28339163-28340231	Hela-S3	cervix:	n/a	n/a
47	FOXP2	chr21:28339804-28340252	PFSK-1	brain:	n/a	n/a
48	MAX	chr21:28339152-28340339	ECC-1	luminal epithelium:	n/a	chr21:28339207-28339216
49	SIN3A	chr21:28339854-28340204	H1-hESC	embryonic stem cell:	n/a	chr21:28340094-28340105
50	SMARCB1	chr21:28337726-28340301	Hela-S3	cervix:	n/a	n/a

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

Variant related genes	Relation type
ADAMTS5	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1497273	0.90[ASN][1000 genomes]
rs1497274	0.90[ASN][1000 genomes]
rs1974415	0.96[ASN][1000 genomes]
rs2132824	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2830598	0.90[ASN][1000 genomes]
rs2830599	0.86[ASN][1000 genomes]
rs2830600	0.90[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:98 , 50 per page) page: 1 2

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	chr21:28335600-28340400	Active TSS	HSMM	muscle
6	chr21:28335800-28340400	Active TSS	Right Atrium	heart
7	chr21:28336400-28340400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr21:28336800-28340400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
9	chr21:28337200-28340600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr21:28337400-28340200	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr21:28337400-28340400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:28337400-28340400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr21:28337400-28340600	Active TSS	NHLF	lung
14	chr21:28337400-28340800	Active TSS	Osteobl	bone
15	chr21:28337600-28340200	Active TSS	Brain Angular Gyrus	brain
16	chr21:28337600-28340400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr21:28337600-28340400	Bivalent/Poised TSS	Colonic Mucosa	Colon
18	chr21:28337600-28340400	Bivalent/Poised TSS	Fetal Stomach	stomach
19	chr21:28337600-28340400	Active TSS	HSMMtube	muscle
20	chr21:28337600-28340600	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
21	chr21:28337600-28340800	Active TSS	Fetal Kidney	kidney
22	chr21:28337600-28341000	Active TSS	Hela-S3	cervix
23	chr21:28337800-28340200	Active TSS	Aorta	Aorta
24	chr21:28337800-28340200	Active TSS	Spleen	Spleen
25	chr21:28337800-28340400	Active TSS	H9 Cell Line	embryonic stem cell
26	chr21:28337800-28340400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:28337800-28340400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
28	chr21:28337800-28340400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr21:28337800-28340600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr21:28337800-28340600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr21:28337800-28340600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:28337800-28340600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr21:28338000-28340200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr21:28338000-28340200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:28338000-28340400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr21:28338000-28340400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr21:28338000-28340400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr21:28338200-28340200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:28338200-28340200	Bivalent/Poised TSS	Thymus	Thymus
40	chr21:28338400-28340200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr21:28338400-28340200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr21:28338400-28340200	Active TSS	Brain Cingulate Gyrus	brain
43	chr21:28338400-28340400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr21:28338400-28340400	Bivalent/Poised TSS	Fetal Lung	lung
45	chr21:28338400-28340400	Flanking Active TSS	Placenta	Placenta
46	chr21:28338400-28340600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
47	chr21:28338600-28340400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr21:28338600-28340400	Active TSS	Duodenum Mucosa	Duodenum
49	chr21:28338600-28340400	Active TSS	Left Ventricle	heart
50	chr21:28338600-28340400	Active TSS	Stomach Smooth Muscle	stomach

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