Variant report

Variant	rs113771065
Chromosome Location	chr21:47620946-47620947
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	USF1	chr21:47620848-47621530	GM12878	blood:	n/a	chr21:47621165-47621176 chr21:47621210-47621221
2	POU2F2	chr21:47620805-47621534	GM12878	blood:	n/a	n/a
3	ZBTB33	chr21:47620851-47621557	GM12878	blood:	n/a	n/a
4	NR2F2	chr21:47620814-47621561	K562	blood:	n/a	n/a
5	POLR2A	chr21:47620857-47621519	H1-hESC	embryonic stem cell:	n/a	n/a
6	ESR1	chr21:47620853-47621558	T-47D	breast:	n/a	chr21:47621046-47621061 chr21:47621001-47621016 chr21:47621496-47621511
7	ZBTB33	chr21:47620810-47621536	GM12878	blood:	n/a	n/a
8	POLR2A	chr21:47620813-47621531	SK-N-MC	brain:	n/a	n/a
9	HEY1	chr21:47620819-47621557	HepG2	liver:	n/a	n/a
10	HEY1	chr21:47620880-47621453	K562	blood:	n/a	n/a
11	PAX5	chr21:47620737-47621559	GM12878	blood:	n/a	n/a
12	USF1	chr21:47620872-47621503	HepG2	liver:	n/a	chr21:47621165-47621176 chr21:47621210-47621221
13	CBX3	chr21:47620835-47621598	K562	blood:	n/a	n/a
14	POLR2A	chr21:47620864-47621580	GM12878	blood:	n/a	n/a
15	TCF3	chr21:47620873-47621525	GM12878	blood:	n/a	n/a
16	POLR2A	chr21:47620893-47621493	HepG2	liver:	n/a	n/a
17	ESR1	chr21:47620683-47621148	ECC-1	luminal epithelium:	n/a	chr21:47621046-47621061 chr21:47621001-47621016
18	ESR1	chr21:47620728-47621131	ECC-1	luminal epithelium:	n/a	chr21:47621046-47621061 chr21:47621001-47621016
19	PAX5	chr21:47620887-47621566	GM12878	blood:	n/a	n/a
20	EGR1	chr21:47620804-47621111	K562	blood:	n/a	n/a
21	FOSL2	chr21:47620810-47621574	HepG2	liver:	n/a	n/a
22	ESR1	chr21:47620884-47621092	ECC-1	luminal epithelium:	n/a	chr21:47621046-47621061 chr21:47621001-47621016
23	POLR2A	chr21:47620724-47621565	GM12892	blood:	n/a	n/a
24	SPI1	chr21:47620890-47621514	K562	blood:	n/a	n/a
25	JUND	chr21:47620864-47621526	HepG2	liver:	n/a	n/a
26	POLR2A	chr21:47620788-47621587	GM12878	blood:	n/a	n/a
27	MAX	chr21:47620848-47621106	K562	blood:	n/a	n/a
28	POLR2A	chr21:47620877-47621500	H1-hESC	embryonic stem cell:	n/a	n/a
29	TCF12	chr21:47620924-47621487	HepG2	liver:	n/a	n/a
30	ZNF263	chr21:47620852-47621183	HEK293-T-REx	kidney:	n/a	n/a
31	POLR2A	chr21:47620867-47621501	GM12878	blood:	n/a	n/a
32	POLR2A	chr21:47620936-47621514	U87	brain:	n/a	n/a
33	SIX5	chr21:47620864-47621469	K562	blood:	n/a	n/a
34	USF1	chr21:47620863-47621534	GM12878	blood:	n/a	chr21:47621165-47621176 chr21:47621210-47621221
35	CTCF	chr21:47620945-47620949	Pancreas_OC	pancreas:	n/a	n/a
36	SIX5	chr21:47620869-47621545	K562	blood:	n/a	n/a
37	USF1	chr21:47620756-47621121	K562	blood:	n/a	n/a
38	IRF4	chr21:47620755-47621636	GM12878	blood:	n/a	n/a
39	SP1	chr21:47620859-47621533	GM12878	blood:	n/a	n/a
40	GABPA	chr21:47620908-47621445	GM12878	blood:	n/a	n/a
41	GATA2	chr21:47620849-47621619	K562	blood:	n/a	n/a
42	EGR1	chr21:47620927-47621099	K562	blood:	n/a	n/a
43	POLR2A	chr21:47620791-47621571	GM12891	blood:	n/a	n/a
44	NR2F2	chr21:47620831-47621645	K562	blood:	n/a	n/a
45	ESR1	chr21:47620851-47621536	T-47D	breast:	n/a	chr21:47621046-47621061 chr21:47621001-47621016 chr21:47621496-47621511
46	FOSL2	chr21:47620921-47621586	HepG2	liver:	n/a	n/a
47	POLR2A	chr21:47620872-47621523	HepG2	liver:	n/a	n/a
48	USF1	chr21:47620660-47621152	K562	blood:	n/a	n/a
49	ESR1	chr21:47620795-47621120	ECC-1	luminal epithelium:	n/a	chr21:47621046-47621061 chr21:47621001-47621016
50	PAX5	chr21:47620891-47621507	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:47607532..47609411-chr21:47620514..47622375,2	K562	blood:
2	chr21:47620347..47622870-chr21:47628360..47630979,2	K562	blood:
3	chr21:47604104..47606583-chr21:47618038..47621981,3	K562	blood:
4	chr21:47326297..47326825-chr21:47620902..47621507,2	MCF-7	breast:

Variant related genes	Relation type
LSS	TF binding region
ENSG00000228404	Chromatin interaction
ENSG00000160284	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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv1061087	chr21:47476088-47643219	Enhancers ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	n/a
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	nsv1062031	chr21:47608580-47643219	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
25	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
26	esv3354277	chr21:47619724-47624222	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47605000-47633200	Weak transcription	Stomach Mucosa	stomach
2	chr21:47605200-47646200	Weak transcription	Psoas Muscle	Psoas
3	chr21:47605400-47625600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr21:47605400-47646200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr21:47605400-47646200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr21:47605800-47621000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr21:47606600-47639800	Strong transcription	Fetal Brain Female	brain
8	chr21:47607400-47645200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr21:47607400-47646200	Strong transcription	Fetal Stomach	stomach
10	chr21:47607800-47621000	Strong transcription	Liver	Liver
11	chr21:47608400-47621000	Strong transcription	Dnd41	blood
12	chr21:47608400-47622800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr21:47609000-47634800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr21:47609200-47621000	Strong transcription	Fetal Muscle Leg	muscle
15	chr21:47609400-47621400	Weak transcription	A549	lung
16	chr21:47609400-47621600	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr21:47609600-47623000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr21:47609800-47621000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:47609800-47621000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr21:47610000-47637600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr21:47610000-47644000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:47610200-47621000	Strong transcription	Primary T cells from cord blood	blood
23	chr21:47610800-47621000	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr21:47611000-47633600	Weak transcription	Right Atrium	heart
25	chr21:47611200-47622000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr21:47611600-47621000	Strong transcription	Brain Substantia Nigra	brain
27	chr21:47611600-47621800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr21:47611600-47623000	Strong transcription	Adipose Nuclei	Adipose
29	chr21:47611600-47642400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:47611600-47643400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:47611800-47621000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:47611800-47621000	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr21:47611800-47621000	Strong transcription	HepG2	liver
34	chr21:47611800-47633400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr21:47611800-47634800	Strong transcription	NHDF-Ad	bronchial
36	chr21:47612000-47621000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr21:47612000-47621000	Strong transcription	HMEC	breast
38	chr21:47612000-47624200	Weak transcription	Small Intestine	intestine
39	chr21:47612000-47635600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr21:47612200-47644400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr21:47612200-47645600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:47612400-47644400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:47613600-47621000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr21:47613600-47621000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr21:47614200-47622800	Weak transcription	NH-A	brain
46	chr21:47614200-47646000	Weak transcription	Fetal Brain Male	brain
47	chr21:47614200-47646200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr21:47615600-47621600	Strong transcription	HUVEC	blood vessel
49	chr21:47616000-47625000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr21:47616000-47625000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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