Variant report

Variant	rs561268622
Chromosome Location	chr21:47647974-47647975
allele	C/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	MYC	chr21:47647973-47648714	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr21:47647595-47648005	GM12878	blood:	n/a	chr21:47647962-47647972
3	MYC	chr21:47647842-47649764	K562	blood:	n/a	chr21:47647962-47647972 chr21:47648926-47648936 chr21:47648909-47648918 chr21:47649337-47649347 chr21:47649404-47649414
4	E2F6	chr21:47647915-47649989	K562	blood:	n/a	chr21:47648778-47648787 chr21:47649412-47649421 chr21:47648831-47648840 chr21:47649121-47649135 chr21:47649339-47649351
5	MYC	chr21:47647759-47649517	NB4	blood:	n/a	chr21:47647962-47647972 chr21:47648926-47648936 chr21:47648909-47648918 chr21:47649337-47649347 chr21:47649404-47649414
6	MAX	chr21:47647801-47649516	Hela-S3	cervix:	n/a	chr21:47647962-47647972 chr21:47648926-47648936 chr21:47648909-47648918 chr21:47649337-47649347 chr21:47649404-47649414
7	SMARCB1	chr21:47647881-47648677	Hela-S3	cervix:	n/a	n/a
8	E2F6	chr21:47647923-47649028	H1-hESC	embryonic stem cell:	n/a	chr21:47648778-47648787 chr21:47648831-47648840
9	SIN3A	chr21:47647936-47648726	GM12878	blood:	n/a	chr21:47648221-47648234
10	SIN3AK20	chr21:47647452-47649678	MCF-7	breast:	n/a	n/a
11	FOXA1	chr21:47647866-47648109	T-47D	breast:	n/a	n/a
12	FOXA1	chr21:47647815-47648162	HepG2	liver:	n/a	n/a
13	POLR2A	chr21:47647686-47648805	GM12891	blood:	n/a	n/a
14	MAZ	chr21:47647784-47649731	K562	blood:	n/a	chr21:47647962-47647972 chr21:47648926-47648936 chr21:47648909-47648918 chr21:47649337-47649347 chr21:47649404-47649414
15	CCNT2	chr21:47647768-47649855	K562	blood:	n/a	chr21:47649333-47649342 chr21:47649327-47649336
16	UBTF	chr21:47647764-47648491	K562	blood:	n/a	n/a
17	BHLHE40	chr21:47647803-47649349	GM12878	blood:	n/a	n/a
18	POLR2A	chr21:47647784-47650745	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr21:47647936-47649606	MCF10A-Er-Src	breast:	n/a	chr21:47647962-47647972 chr21:47648926-47648936 chr21:47648909-47648918 chr21:47649337-47649347 chr21:47649404-47649414
20	MXI1	chr21:47647873-47649621	HepG2	liver:	n/a	n/a
21	IRF1	chr21:47647783-47648807	K562	blood:	n/a	n/a
22	POLR2A	chr21:47647844-47648808	IMR90	lung:	n/a	n/a
23	ZNF263	chr21:47647825-47648682	HEK293-T-REx	kidney:	n/a	n/a
24	FOXA1	chr21:47647849-47648078	T-47D	breast:	n/a	n/a
25	STAT1	chr21:47647860-47647981	GM12878	blood:	n/a	chr21:47647946-47647958
26	SIN3AK20	chr21:47647949-47649573	MCF-7	breast:	n/a	n/a
27	MYC	chr21:47647875-47648125	MCF10A-Er-Src	breast:	n/a	chr21:47647962-47647972
28	UBTF	chr21:47647667-47648775	K562	blood:	n/a	n/a
29	SIN3A	chr21:47647489-47648884	H1-hESC	embryonic stem cell:	n/a	chr21:47648221-47648234
30	FOXA2	chr21:47647869-47648060	HepG2	liver:	n/a	n/a
31	FOXA2	chr21:47647799-47648086	A549	lung:	n/a	n/a
32	BHLHE40	chr21:47647771-47649855	K562	blood:	n/a	chr21:47649373-47649389
33	MXI1	chr21:47647550-47650095	SK-N-SH	brain:	n/a	n/a
34	MXI1	chr21:47646983-47649758	IMR90	lung:	n/a	n/a
35	GATA1	chr21:47646992-47648126	PBDE	blood:	n/a	n/a
36	FOXA1	chr21:47647768-47648188	HepG2	liver:	n/a	n/a
37	MAZ	chr21:47647968-47649806	IMR90	lung:	n/a	chr21:47648926-47648936 chr21:47648909-47648918 chr21:47649337-47649347 chr21:47649404-47649414
38	ELK1	chr21:47647856-47648009	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47646324..47649299-chr21:47673752..47676483,2	K562	blood:
2	chr21:47633762..47640190-chr21:47646866..47650293,7	MCF-7	breast:
3	chr21:47645527..47650637-chr21:47703398..47707562,6	MCF-7	breast:
4	chr21:47639961..47644801-chr21:47645631..47650469,7	K562	blood:
5	chr21:47647891..47649801-chr21:47679065..47680838,2	K562	blood:
6	chr21:47646929..47655402-chr21:47657205..47667464,13	MCF-7	breast:
7	chr21:47647621..47651234-chr21:47875652..47881416,7	K562	blood:
8	chr21:47647133..47651621-chr21:47740452..47747290,19	K562	blood:
9	chr21:47646269..47649125-chr21:47743785..47746480,4	MCF-7	breast:
10	chr21:47645020..47650682-chr21:47742361..47746485,6	MCF-7	breast:
11	chr21:47647264..47651365-chr21:47875652..47880068,5	K562	blood:
12	chr21:47647133..47651941-chr21:47742263..47745700,6	K562	blood:
13	chr21:47562180..47565264-chr21:47646835..47649294,3	MCF-7	breast:
14	chr21:47647612..47649806-chr21:48055027..48056571,2	K562	blood:
15	chr21:47569776..47574608-chr21:47647325..47651354,5	K562	blood:
16	chr21:47639839..47642625-chr21:47644945..47648967,4	K562	blood:
17	chr21:47646904..47649112-chr21:47706461..47708002,3	MCF-7	breast:
18	chr21:47646455..47648066-chr21:47714633..47716764,2	MCF-7	breast:
19	chr21:47647592..47650436-chr21:47705418..47707523,3	K562	blood:
20	chr21:47601827..47605045-chr21:47646095..47649627,4	MCF-7	breast:
21	chr21:47636662..47640838-chr21:47647206..47649915,5	MCF-7	breast:
22	chr21:47647264..47648921-chr21:47877829..47879532,2	MCF-7	breast:
23	chr21:47647765..47652638-chr21:47704055..47705991,5	MCF-7	breast:

Variant related genes	Relation type
MCM3AP-AS1	TF binding region
ENSG00000160298	Chromatin interaction
ENSG00000237338	Chromatin interaction
ENSG00000182362	Chromatin interaction
ENSG00000160282	Chromatin interaction
ENSG00000160305	Chromatin interaction
ENSG00000160284	Chromatin interaction
ENSG00000239415	Chromatin interaction
ENSG00000228404	Chromatin interaction
ENSG00000223901	Chromatin interaction
ENSG00000160310	Chromatin interaction
ENSG00000160299	Chromatin interaction
ENSG00000160294	Chromatin interaction
ENSG00000228137	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
2	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
3	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
4	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
5	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
6	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
7	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
8	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
9	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
10	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
11	nsv1059118	chr21:47398331-48090457	Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
12	nsv544494	chr21:47398331-48090457	Strong transcription Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
13	nsv934264	chr21:47401083-48090317	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
14	nsv1060978	chr21:47488073-47833640	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	n/a
15	nsv914101	chr21:47491014-47650362	Active TSS Flanking Active TSS Enhancers Strong transcription 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	21 gene(s)	inside rSNPs	n/a
16	nsv914116	chr21:47535248-47650362	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
17	nsv519904	chr21:47583506-47881309	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	n/a
18	nsv948761	chr21:47587940-48069930	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	n/a
19	nsv1055239	chr21:47591378-48090317	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
20	nsv544495	chr21:47591378-48090317	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	n/a
21	nsv933354	chr21:47609029-47851401	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	n/a
22	nsv949706	chr21:47625544-48069930	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
23	nsv914134	chr21:47632995-47712185	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	n/a
24	nsv529496	chr21:47634193-48090317	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	n/a
25	esv3322089	chr21:47647549-47650497	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
26	esv3377874	chr21:47647774-47650272	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47645600-47648400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr21:47646000-47648000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr21:47646200-47648000	Flanking Active TSS	Fetal Brain Female	brain
4	chr21:47646200-47648000	Flanking Active TSS	HUVEC	blood vessel
5	chr21:47646200-47648200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:47646200-47649800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr21:47646600-47648000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr21:47646600-47648200	Flanking Active TSS	Dnd41	blood
9	chr21:47646600-47649600	Active TSS	NHLF	lung
10	chr21:47646600-47649800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr21:47646800-47648000	Flanking Active TSS	Fetal Heart	heart
12	chr21:47646800-47648600	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr21:47646800-47649600	Active TSS	HMEC	breast
14	chr21:47647000-47648000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:47647000-47648000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr21:47647000-47648000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr21:47647000-47648000	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr21:47647000-47648000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr21:47647000-47648000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr21:47647000-47648000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr21:47647000-47648000	Flanking Active TSS	NH-A	brain
22	chr21:47647000-47648000	Flanking Active TSS	Osteobl	bone
23	chr21:47647000-47648400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr21:47647000-47648400	Flanking Active TSS	Liver	Liver
25	chr21:47647000-47648400	Flanking Active TSS	Placenta	Placenta
26	chr21:47647000-47649800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr21:47647000-47650000	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr21:47647000-47650000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr21:47647000-47650200	Active TSS	Fetal Kidney	kidney
30	chr21:47647000-47650400	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr21:47647200-47648000	Flanking Active TSS	Thymus	Thymus
32	chr21:47647200-47648400	Flanking Active TSS	Fetal Thymus	thymus
33	chr21:47647200-47649600	Active TSS	Aorta	Aorta
34	chr21:47647200-47649600	Active TSS	Gastric	stomach
35	chr21:47647200-47649800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:47647200-47649800	Active TSS	NHDF-Ad	bronchial
37	chr21:47647400-47648000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
38	chr21:47647400-47648200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr21:47647400-47648400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr21:47647400-47648600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr21:47647400-47648800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:47647400-47649600	Active TSS	Primary T cells from cord blood	blood
43	chr21:47647400-47649800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr21:47647400-47649800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr21:47647400-47649800	Active TSS	HepG2	liver
46	chr21:47647400-47650000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr21:47647600-47648000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:47647600-47648000	Flanking Active TSS	Placenta Amnion	Placenta Amnion
49	chr21:47647600-47648200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr21:47647600-47648400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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