Variant report

Variant	rs373424990
Chromosome Location	chr21:47401221-47401222
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	MXI1	chr21:47401145-47401390	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOS	chr21:47401211-47401480	MCF10A-Er-Src	breast:	n/a	chr21:47401468-47401478 chr21:47401467-47401479 chr21:47401468-47401477
3	ZNF143	chr21:47400364-47401380	GM12878	blood:	n/a	n/a
4	MAZ	chr21:47401102-47401374	GM12878	blood:	n/a	n/a
5	CBX3	chr21:47400724-47401494	K562	blood:	n/a	n/a
6	STAT3	chr21:47401154-47401354	MCF10A-Er-Src	breast:	n/a	n/a
7	MYC	chr21:47401047-47401237	K562	blood:	n/a	n/a
8	POLR2A	chr21:47401212-47401514	A549	lung:	n/a	n/a
9	MAX	chr21:47401054-47401488	NB4	blood:	n/a	chr21:47401469-47401478
10	TAF1	chr21:47401144-47401508	PFSK-1	brain:	n/a	n/a
11	MYC	chr21:47401114-47401799	NB4	blood:	n/a	chr21:47401469-47401478
12	POLR2A	chr21:47401179-47401481	HCT-116	colon:	n/a	n/a
13	POLR2A	chr21:47401099-47402132	ProgFib	skin:	n/a	n/a
14	E2F6	chr21:47401058-47401475	K562	blood:	n/a	n/a
15	POLR2A	chr21:47401189-47401913	HEK293	kidney:	n/a	n/a
16	MAX	chr21:47401097-47401494	H1-hESC	embryonic stem cell:	n/a	chr21:47401469-47401478
17	POLR2A	chr21:47401140-47401471	K562	blood:	n/a	n/a
18	E2F6	chr21:47401019-47401538	H1-hESC	embryonic stem cell:	n/a	n/a
19	REST	chr21:47401082-47401335	K562	blood:	n/a	n/a
20	MAZ	chr21:47401123-47401868	Hela-S3	cervix:	n/a	chr21:47401469-47401478
21	CTCF	chr21:47401140-47401290	HCPEpiC	choroid plexus:	n/a	n/a
22	POLR2A	chr21:47401162-47401484	U87	brain:	n/a	n/a
23	POLR2A	chr21:47400990-47401962	PFSK-1	brain:	n/a	n/a
24	POLR2A	chr21:47401184-47401478	ECC-1	luminal epithelium:	n/a	n/a
25	CHD2	chr21:47401154-47401377	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF263	chr21:47400808-47401462	HEK293-T-REx	kidney:	n/a	chr21:47401350-47401359
27	SIN3A	chr21:47401091-47401481	H1-hESC	embryonic stem cell:	n/a	n/a
28	ZNF143	chr21:47400849-47401407	Hela-S3	cervix:	n/a	n/a
29	MAX	chr21:47400992-47401492	K562	blood:	n/a	chr21:47401469-47401478
30	POLR2A	chr21:47401208-47401886	H1-neurons	neurons:	n/a	n/a
31	MYC	chr21:47401155-47401376	K562	blood:	n/a	n/a
32	MAX	chr21:47401064-47401515	A549	lung:	n/a	chr21:47401469-47401478
33	MAX	chr21:47401121-47401439	K562	blood:	n/a	n/a
34	MAZ	chr21:47400656-47403757	IMR90	lung:	n/a	chr21:47401469-47401478 chr21:47403308-47403318 chr21:47403612-47403621 chr21:47403387-47403397 chr21:47402689-47402698
35	HCFC1	chr21:47401158-47401400	K562	blood:	n/a	n/a
36	TBP	chr21:47401140-47401815	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr21:47400875-47401483	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr21:47400977-47401505	U87	brain:	n/a	n/a
39	MYC	chr21:47401084-47401481	K562	blood:	n/a	chr21:47401469-47401478
40	MAX	chr21:47401050-47401505	SK-N-SH	brain:	n/a	chr21:47401469-47401478
41	POLR2A	chr21:47401100-47401312	MCF10A-Er-Src	breast:	n/a	n/a
42	FOSL2	chr21:47401075-47401484	A549	lung:	n/a	chr21:47401468-47401478 chr21:47401467-47401479 chr21:47401468-47401477 chr21:47401470-47401481
43	POLR2A	chr21:47401170-47401462	SK-N-MC	brain:	n/a	n/a
44	MXI1	chr21:47400831-47402685	SK-N-SH	brain:	n/a	n/a
45	SMC3	chr21:47401211-47401466	Hela-S3	cervix:	n/a	n/a
46	RAD21	chr21:47401217-47401447	H1-hESC	embryonic stem cell:	n/a	n/a
47	GATA3	chr21:47400987-47401292	SH-SY5Y	brain:	n/a	chr21:47401160-47401167
48	MAX	chr21:47401155-47401798	K562	blood:	n/a	chr21:47401469-47401478
49	MAX	chr21:47401123-47401500	H1-hESC	embryonic stem cell:	n/a	chr21:47401469-47401478
50	BACH1	chr21:47401113-47401376	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:47399588..47401782-chr21:47405993..47408923,2	MCF-7	breast:
2	chr1:11967988..11968880-chr21:47400979..47401814,2	HCT-116	colon:

Variant related genes	Relation type
COL6A1	TF binding region
ENSG00000142156	Chromatin interaction
ENSG00000199347	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47398800-47401600	Weak transcription	Lung	lung
2	chr21:47400400-47401400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
3	chr21:47400600-47401400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:47400600-47401400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr21:47400600-47401400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr21:47400600-47401400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr21:47400600-47401400	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr21:47400600-47401400	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr21:47400600-47401400	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr21:47400600-47401400	Flanking Active TSS	Dnd41	blood
11	chr21:47400600-47401400	Flanking Active TSS	NH-A	brain
12	chr21:47400600-47401400	Flanking Active TSS	Osteobl	bone
13	chr21:47400600-47402200	Active TSS	A549	lung
14	chr21:47400800-47401400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:47400800-47401400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:47400800-47401400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
17	chr21:47400800-47401400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr21:47400800-47401400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr21:47400800-47401400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
20	chr21:47400800-47401400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr21:47400800-47401400	Flanking Active TSS	Brain Substantia Nigra	brain
22	chr21:47400800-47401400	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr21:47400800-47401400	Flanking Active TSS	Fetal Brain Male	brain
24	chr21:47400800-47401400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
25	chr21:47400800-47401400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr21:47400800-47402200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr21:47400800-47402400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:47400800-47403200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr21:47400800-47403200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr21:47400800-47403600	Active TSS	Placenta Amnion	Placenta Amnion
31	chr21:47400800-47403800	Active TSS	Left Ventricle	heart
32	chr21:47401000-47401400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
33	chr21:47401000-47401400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr21:47401000-47401400	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr21:47401000-47401400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
36	chr21:47401000-47401400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr21:47401000-47401400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
38	chr21:47401000-47401400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr21:47401000-47401400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr21:47401000-47401400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr21:47401000-47401400	Flanking Active TSS	Liver	Liver
42	chr21:47401000-47401400	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr21:47401000-47401400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr21:47401000-47401400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr21:47401000-47401400	Flanking Active TSS	Fetal Heart	heart
46	chr21:47401000-47401400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
47	chr21:47401000-47401400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
48	chr21:47401000-47401400	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr21:47401000-47401400	Flanking Active TSS	Fetal Muscle Leg	muscle
50	chr21:47401000-47401400	Flanking Active TSS	Placenta	Placenta

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