Variant report

Variant	rs548076718
Chromosome Location	chr21:47402036-47402037
allele	A/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	POLR2A	chr21:47401535-47402138	PFSK-1	brain:	n/a	n/a
2	CTCF	chr21:47402020-47402170	BJ	skin:	n/a	n/a
3	POLR2A	chr21:47401099-47402132	ProgFib	skin:	n/a	n/a
4	TEAD4	chr21:47401573-47402107	SK-N-SH	brain:	n/a	n/a
5	CHD1	chr21:47401594-47403769	IMR90	lung:	n/a	n/a
6	SIN3A	chr21:47401733-47403105	H1-hESC	embryonic stem cell:	n/a	chr21:47402456-47402465 chr21:47402459-47402472
7	MAZ	chr21:47400656-47403757	IMR90	lung:	n/a	chr21:47401469-47401478 chr21:47403308-47403318 chr21:47403612-47403621 chr21:47403387-47403397 chr21:47402689-47402698
8	MXI1	chr21:47400831-47402685	SK-N-SH	brain:	n/a	n/a
9	ZBTB7A	chr21:47401618-47402525	ECC-1	luminal epithelium:	n/a	n/a
10	ZBTB7A	chr21:47401624-47402295	ECC-1	luminal epithelium:	n/a	n/a
11	REST	chr21:47400848-47402216	H1-neurons	neurons:	n/a	chr21:47401425-47401443
12	RAD21	chr21:47401019-47403535	IMR90	lung:	n/a	chr21:47402453-47402467 chr21:47403436-47403450
13	ZBTB7A	chr21:47401622-47402107	K562	blood:	n/a	n/a
14	MAZ	chr21:47401068-47402065	K562	blood:	n/a	chr21:47401469-47401478
15	POLR2A	chr21:47401586-47402610	U87	brain:	n/a	n/a
16	POLR2A	chr21:47400248-47403609	IMR90	lung:	n/a	n/a
17	MXI1	chr21:47401595-47403734	IMR90	lung:	n/a	n/a
18	POLR2A	chr21:47401550-47402116	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr21:47400977-47403288	U87	brain:	n/a	n/a
20	HMGN3	chr21:47401693-47402062	K562	blood:	n/a	n/a
21	CTCF	chr21:47401980-47402130	AG04449	skin:	n/a	n/a
22	ZBTB7A	chr21:47401934-47402120	HepG2	liver:	n/a	n/a
23	CTCF	chr21:47401960-47402110	AG04449	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47401629..47403752-chr21:47406521..47408992,2	K562	blood:
2	chr21:47401680..47403965-chr21:47408741..47410479,2	K562	blood:

Variant related genes	Relation type
COL6A1	TF binding region
ENSG00000142156	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	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
10	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
11	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
12	nsv914083	chr21:47265786-47453954	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	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
14	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
15	nsv914085	chr21:47342116-47433055	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
16	esv1848879	chr21:47343462-47455584	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
17	nsv914086	chr21:47352625-47445184	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
18	nsv914087	chr21:47352625-47453954	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
19	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
20	nsv914088	chr21:47358915-47419012	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
21	nsv914089	chr21:47383056-47453954	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
22	nsv914090	chr21:47383056-47465205	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
23	nsv914091	chr21:47383056-47483799	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
24	nsv587930	chr21:47389258-47423389	Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
25	nsv587931	chr21:47393268-47412660	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
26	esv1802000	chr21:47394780-47476081	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
27	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
28	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
29	nsv587932	chr21:47398411-47418311	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
30	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
31	nsv587933	chr21:47401193-47412703	Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
32	esv1824109	chr21:47401282-47431018	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47400600-47402200	Active TSS	A549	lung
2	chr21:47400800-47402200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:47400800-47402400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:47400800-47403200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr21:47400800-47403200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr21:47400800-47403600	Active TSS	Placenta Amnion	Placenta Amnion
7	chr21:47400800-47403800	Active TSS	Left Ventricle	heart
8	chr21:47401000-47402200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr21:47401000-47402600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr21:47401000-47402600	Active TSS	Right Ventricle	heart
11	chr21:47401000-47402600	Active TSS	NHDF-Ad	bronchial
12	chr21:47401000-47402800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:47401000-47403200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr21:47401000-47403200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr21:47401000-47403400	Active TSS	Ovary	ovary
16	chr21:47401000-47403600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr21:47401000-47403600	Active TSS	Psoas Muscle	Psoas
18	chr21:47401000-47404000	Active TSS	Right Atrium	heart
19	chr21:47401000-47404200	Active TSS	Colon Smooth Muscle	Colon
20	chr21:47401200-47402200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr21:47401200-47402200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr21:47401200-47402200	Active TSS	Fetal Brain Female	brain
23	chr21:47401200-47402200	Active TSS	NHLF	lung
24	chr21:47401200-47402400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr21:47401200-47402400	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr21:47401200-47402400	Bivalent Enhancer	Stomach Mucosa	stomach
27	chr21:47401200-47402600	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr21:47401200-47402600	Active TSS	Fetal Stomach	stomach
29	chr21:47401200-47402800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:47401200-47403000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr21:47401200-47403200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr21:47401200-47403200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:47401200-47403200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr21:47401200-47403200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr21:47401200-47403200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr21:47401200-47403400	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr21:47401200-47403400	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr21:47401200-47403400	Bivalent/Poised TSS	Thymus	Thymus
39	chr21:47401200-47403600	Active TSS	Aorta	Aorta
40	chr21:47401200-47403600	Active TSS	Fetal Kidney	kidney
41	chr21:47401200-47404000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr21:47401200-47404000	Active TSS	Gastric	stomach
43	chr21:47401200-47404400	Active TSS	HSMM	muscle
44	chr21:47401200-47407600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr21:47401400-47402200	Enhancers	Fetal Brain Male	brain
46	chr21:47401400-47402200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
47	chr21:47401400-47402200	Active TSS	HepG2	liver
48	chr21:47401400-47402400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr21:47401400-47402400	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr21:47401400-47402400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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