Variant report

Variant	rs199709051
Chromosome Location	chr21:45378720-45378721
allele	-/GTGTGGCAT
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	POLR2A	chr21:45378079-45379573	GM12891	blood:	n/a	n/a
2	POU2F2	chr21:45377998-45379486	GM12891	blood:	n/a	n/a
3	STAT5A	chr21:45378130-45379688	K562	blood:	n/a	n/a
4	RCOR1	chr21:45377333-45379414	GM12878	blood:	n/a	n/a
5	ZBTB33	chr21:45378116-45378965	GM12878	blood:	n/a	n/a
6	MYC	chr21:45378702-45379000	GM12878	blood:	n/a	n/a
7	POLR2A	chr21:45378145-45379276	GM12878	blood:	n/a	n/a
8	POU2F2	chr21:45378074-45379371	GM12878	blood:	n/a	n/a
9	NFIC	chr21:45377059-45379455	GM12878	blood:	n/a	chr21:45377743-45377759
10	MAZ	chr21:45377304-45379011	GM12878	blood:	n/a	chr21:45377760-45377770
11	POLR2A	chr21:45378098-45379746	K562	blood:	n/a	n/a
12	IRF4	chr21:45378021-45379476	GM12878	blood:	n/a	n/a
13	CEBPB	chr21:45378091-45379276	GM12878	blood:	n/a	n/a
14	POLR2A	chr21:45376995-45379790	GM12878	blood:	n/a	n/a
15	EBF1	chr21:45378177-45378846	GM12878	blood:	n/a	n/a
16	POU2F2	chr21:45378064-45379489	GM12891	blood:	n/a	n/a
17	PAX5	chr21:45377658-45379474	GM12878	blood:	n/a	chr21:45377851-45377870
18	PAX5	chr21:45378084-45379416	GM12878	blood:	n/a	n/a
19	RELA	chr21:45377162-45379336	GM18951	blood:	n/a	n/a
20	NFIC	chr21:45377252-45378987	GM12878	blood:	n/a	chr21:45377743-45377759
21	EP300	chr21:45378689-45378966	GM12878	blood:	n/a	n/a
22	PAX5	chr21:45377130-45379720	GM12878	blood:	n/a	chr21:45377851-45377870
23	EP300	chr21:45377381-45379387	GM12878	blood:	n/a	chr21:45377861-45377875
24	NR2C2	chr21:45378143-45379528	GM12878	blood:	n/a	n/a
25	RELA	chr21:45377293-45378720	GM18505	blood:	n/a	n/a
26	SP1	chr21:45378113-45378840	GM12878	blood:	n/a	n/a
27	ZBTB33	chr21:45378114-45379410	GM12878	blood:	n/a	n/a
28	POLR2A	chr21:45378120-45379078	GM12878	blood:	n/a	n/a
29	RELA	chr21:45377245-45378909	GM10847	blood:	n/a	n/a
30	BRCA1	chr21:45378314-45379424	GM12878	blood:	n/a	n/a
31	RUNX3	chr21:45377149-45379617	GM12878	blood:	n/a	chr21:45378456-45378471 chr21:45378476-45378491 chr21:45378514-45378529
32	SUZ12	chr21:45378125-45379480	H1-hESC	embryonic stem cell:	n/a	n/a
33	STAT5A	chr21:45377407-45379959	GM12878	blood:	n/a	chr21:45379826-45379834
34	POLR2A	chr21:45378063-45379552	K562	blood:	n/a	n/a
35	POLR2A	chr21:45378145-45379423	GM12878	blood:	n/a	n/a
36	POLR2A	chr21:45378130-45379624	GM12878	blood:	n/a	n/a
37	POU2F2	chr21:45377977-45379571	GM12878	blood:	n/a	n/a
38	NFATC1	chr21:45377590-45379364	GM12878	blood:	n/a	n/a
39	NFATC1	chr21:45377854-45379486	GM12878	blood:	n/a	n/a
40	POLR2A	chr21:45378036-45379635	HepG2	liver:	n/a	n/a
41	BCLAF1	chr21:45378026-45378997	GM12878	blood:	n/a	n/a
42	RELA	chr21:45376919-45378954	GM12891	blood:	n/a	n/a
43	MTA3	chr21:45377068-45379446	GM12878	blood:	n/a	n/a
44	GATA2	chr21:45378411-45379553	K562	blood:	n/a	n/a
45	POLR2A	chr21:45378015-45379608	GM12891	blood:	n/a	n/a
46	EBF1	chr21:45378112-45379276	GM12878	blood:	n/a	n/a
47	PML	chr21:45377386-45379407	GM12878	blood:	n/a	n/a
48	BCL3	chr21:45378202-45379385	GM12878	blood:	n/a	n/a
49	TBL1XR1	chr21:45377389-45378739	GM12878	blood:	n/a	n/a
50	MTA3	chr21:45376512-45379577	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45230137..45233337-chr21:45376476..45379330,3	K562	blood:
2	chr21:45374823..45379974-chr21:45380727..45386042,6	K562	blood:
3	chr21:45371946..45375677-chr21:45376772..45380405,4	K562	blood:
4	chr21:45376632..45379343-chr21:45547274..45551016,3	K562	blood:
5	chr21:45378072..45381016-chr21:45430291..45432652,2	K562	blood:

Variant related genes	Relation type
AGPAT3	TF binding region
ENSG00000160216	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
3	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv913888	chr21:45351206-45428278	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv913889	chr21:45361044-45414119	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv3397810	chr21:45376824-45380622	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	esv3341187	chr21:45378374-45380872	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45343800-45379800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:45359200-45378800	Weak transcription	NHEK	skin
3	chr21:45359200-45379000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr21:45359400-45389000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr21:45361000-45379200	Weak transcription	Ovary	ovary
6	chr21:45367200-45379200	Weak transcription	Fetal Brain Female	brain
7	chr21:45368400-45379400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:45368400-45379800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr21:45369200-45379400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr21:45369400-45379800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:45369400-45388800	Weak transcription	Colon Smooth Muscle	Colon
12	chr21:45369600-45379000	Weak transcription	Brain Angular Gyrus	brain
13	chr21:45369600-45379200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:45369600-45379400	Weak transcription	Aorta	Aorta
15	chr21:45369600-45381200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr21:45369800-45379400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr21:45370000-45379200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr21:45370000-45379600	Weak transcription	Brain Germinal Matrix	brain
19	chr21:45370000-45381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr21:45370000-45384000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr21:45370000-45390200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr21:45370200-45378800	Weak transcription	Primary T cells from cord blood	blood
23	chr21:45370400-45379400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr21:45371400-45379800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr21:45372600-45379000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr21:45372800-45380000	Weak transcription	Small Intestine	intestine
27	chr21:45373000-45379400	Weak transcription	Colonic Mucosa	Colon
28	chr21:45373000-45395200	Strong transcription	Fetal Intestine Small	intestine
29	chr21:45373800-45381000	Weak transcription	HSMM	muscle
30	chr21:45374200-45380200	Weak transcription	HSMMtube	muscle
31	chr21:45374400-45379000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr21:45374400-45392400	Weak transcription	Stomach Mucosa	stomach
33	chr21:45375000-45379200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr21:45375200-45395400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr21:45375400-45379000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr21:45375400-45379400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr21:45375800-45378800	Enhancers	Fetal Thymus	thymus
38	chr21:45375800-45379000	Enhancers	Stomach Smooth Muscle	stomach
39	chr21:45375800-45379800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr21:45376400-45379200	Enhancers	Primary B cells from peripheral blood	blood
41	chr21:45376400-45379600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr21:45376400-45379800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr21:45376600-45378800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr21:45376600-45379200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr21:45376600-45380200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr21:45376800-45378800	Weak transcription	Brain Substantia Nigra	brain
47	chr21:45376800-45378800	Weak transcription	NHLF	lung
48	chr21:45376800-45379800	Weak transcription	Brain Anterior Caudate	brain
49	chr21:45377000-45379000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr21:45377000-45379200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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