Variant report

Variant	rs561043960
Chromosome Location	chr21:45581178-45581179
allele	G/T
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	MAZ	chr21:45580510-45581275	GM12878	blood:	n/a	n/a
2	SMC3	chr21:45580867-45581189	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:45572928-45581556	GM12878	blood:	n/a	n/a
4	POLR2A	chr21:45578463-45581426	GM12892	blood:	n/a	n/a
5	TBP	chr21:45580785-45581290	GM12878	blood:	n/a	n/a
6	BCLAF1	chr21:45580710-45581257	GM12878	blood:	n/a	n/a
7	PAX5	chr21:45580656-45581197	GM12878	blood:	n/a	n/a
8	NRF1	chr21:45580983-45581291	GM12878	blood:	n/a	chr21:45581001-45581010
9	MAX	chr21:45580601-45581236	ECC-1	luminal epithelium:	n/a	n/a
10	MXI1	chr21:45580789-45581253	GM12878	blood:	n/a	n/a
11	NFIC	chr21:45580766-45581272	GM12878	blood:	n/a	n/a
12	RUNX3	chr21:45580738-45581225	GM12878	blood:	n/a	n/a
13	ATF2	chr21:45580888-45581303	GM12878	blood:	n/a	n/a
14	POLR2A	chr21:45576498-45581335	GM12891	blood:	n/a	n/a
15	EBF1	chr21:45579140-45581393	GM12878	blood:	n/a	chr21:45581234-45581247 chr21:45581235-45581245 chr21:45581236-45581245 chr21:45580762-45580772
16	MTA3	chr21:45578504-45581427	GM12878	blood:	n/a	n/a
17	POLR2A	chr21:45578462-45581396	GM12892	blood:	n/a	n/a
18	POLR2A	chr21:45578579-45581303	HL-60	blood:	n/a	n/a
19	POLR2A	chr21:45578637-45581350	GM12878	blood:	n/a	n/a
20	POLR2A	chr21:45578510-45581471	GM12878	blood:	n/a	n/a
21	POLR2A	chr21:45578683-45581388	GM19193	blood:	n/a	n/a
22	POLR2A	chr21:45578673-45581415	GM12891	blood:	n/a	n/a
23	POLR2A	chr21:45578761-45581407	GM12891	blood:	n/a	n/a
24	EBF1	chr21:45580679-45581387	GM12878	blood:	n/a	chr21:45581234-45581247 chr21:45581235-45581245 chr21:45581236-45581245 chr21:45580762-45580772
25	EBF1	chr21:45580546-45581436	GM12878	blood:	n/a	chr21:45581234-45581247 chr21:45581235-45581245 chr21:45581236-45581245 chr21:45580762-45580772
26	TCF12	chr21:45580571-45581230	ECC-1	luminal epithelium:	n/a	chr21:45580808-45580816
27	POLR2A	chr21:45578654-45581250	GM19099	blood:	n/a	n/a
28	RUNX3	chr21:45580694-45581208	GM12878	blood:	n/a	n/a
29	POLR2A	chr21:45578597-45581337	GM12878	blood:	n/a	n/a
30	CUX1	chr21:45580907-45581365	GM12878	blood:	n/a	n/a
31	TBL1XR1	chr21:45580569-45581311	GM12878	blood:	n/a	n/a
32	POU2F2	chr21:45578744-45581431	GM12878	blood:	n/a	chr21:45579641-45579653 chr21:45579502-45579514 chr21:45579534-45579546
33	POLR2A	chr21:45579422-45581288	GM12892	blood:	n/a	n/a
34	POLR2A	chr21:45576448-45581388	GM12878	blood:	n/a	n/a
35	TCF12	chr21:45580687-45581349	GM12878	blood:	n/a	chr21:45580808-45580816
36	BCL3	chr21:45580780-45581190	GM12878	blood:	n/a	n/a
37	MAX	chr21:45578697-45581235	GM12878	blood:	n/a	n/a
38	PML	chr21:45580555-45581338	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45580740..45582853-chr21:45588250..45590805,3	MCF-7	breast:
2	chr21:45580625..45582180-chr21:45622469..45623971,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225331	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
3	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
4	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
5	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
6	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	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
21	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv913899	chr21:45577102-45611950	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	esv3398689	chr21:45580349-45583097	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	esv3365228	chr21:45580724-45582772	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45561000-45584400	Weak transcription	Aorta	Aorta
2	chr21:45571000-45582600	Weak transcription	Ovary	ovary
3	chr21:45575400-45583400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr21:45575400-45586000	Weak transcription	Fetal Lung	lung
5	chr21:45575400-45592000	Weak transcription	Fetal Brain Female	brain
6	chr21:45575600-45584800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:45576600-45581200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:45577600-45581400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr21:45578800-45581400	Flanking Active TSS	GM12878-XiMat	blood
10	chr21:45579000-45581200	Enhancers	Lung	lung
11	chr21:45579200-45581200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr21:45579400-45581200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:45579400-45581400	Enhancers	Esophagus	oesophagus
14	chr21:45579600-45581200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr21:45579800-45581200	Enhancers	Primary T cells from cord blood	blood
16	chr21:45579800-45581400	Enhancers	Brain Anterior Caudate	brain
17	chr21:45579800-45581600	Enhancers	Placenta	Placenta
18	chr21:45579800-45583000	Enhancers	Fetal Muscle Leg	muscle
19	chr21:45579800-45590400	Weak transcription	Colon Smooth Muscle	Colon
20	chr21:45579800-45590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr21:45580000-45591200	Weak transcription	Fetal Heart	heart
22	chr21:45580200-45581200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr21:45580200-45581200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:45580200-45581200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr21:45580200-45581200	Enhancers	Duodenum Mucosa	Duodenum
26	chr21:45580200-45581200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr21:45580200-45581400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr21:45580200-45581400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr21:45580200-45581400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr21:45580200-45581400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr21:45580200-45581400	Enhancers	Fetal Thymus	thymus
32	chr21:45580200-45581400	Enhancers	Dnd41	blood
33	chr21:45580200-45581600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr21:45580200-45582800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr21:45580400-45581200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr21:45580400-45581200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr21:45580400-45581200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr21:45580400-45581200	Enhancers	Thymus	Thymus
39	chr21:45580400-45581200	Bivalent Enhancer	NHEK	skin
40	chr21:45580400-45581400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:45580400-45581400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:45580400-45581400	Enhancers	Primary T cells fromperipheralblood	blood
43	chr21:45580400-45581400	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr21:45580400-45581400	Enhancers	Fetal Stomach	stomach
45	chr21:45580400-45581400	Enhancers	Stomach Smooth Muscle	stomach
46	chr21:45580400-45581400	Enhancers	NHDF-Ad	bronchial
47	chr21:45580400-45581600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr21:45580600-45581200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr21:45580600-45581200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr21:45580600-45581200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin

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