Variant report

Variant	rs541016583
Chromosome Location	chr21:45526759-45526760
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	NFATC1	chr21:45526652-45527480	GM12878	blood:	n/a	n/a
2	SP1	chr21:45526735-45527515	A549	lung:	n/a	chr21:45527023-45527034 chr21:45527024-45527033 chr21:45527090-45527099 chr21:45527090-45527099 chr21:45527088-45527100 chr21:45527088-45527099 chr21:45527023-45527035 chr21:45527023-45527035 chr21:45527025-45527034 chr21:45527024-45527034 chr21:45527088-45527100 chr21:45527089-45527098 chr21:45527020-45527034 chr21:45527024-45527034
3	TAF1	chr21:45526715-45527078	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr21:45526466-45527763	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr21:45526673-45527539	PANC-1	pancreas:	n/a	n/a
6	ZNF384	chr21:45526373-45527377	K562	blood:	n/a	n/a
7	POLR2A	chr21:45526681-45528393	MCF-7	breast:	n/a	n/a
8	ETS1	chr21:45526727-45527561	K562	blood:	n/a	chr21:45527199-45527208 chr21:45527353-45527364 chr21:45527199-45527210 chr21:45527200-45527210 chr21:45527199-45527216 chr21:45527199-45527208 chr21:45527320-45527331
9	POU2F2	chr21:45526707-45527363	GM12891	blood:	n/a	n/a
10	POLR2A	chr21:45526653-45527392	PANC-1	pancreas:	n/a	n/a
11	STAT5A	chr21:45526599-45527756	GM12878	blood:	n/a	chr21:45527196-45527205 chr21:45527191-45527211 chr21:45527191-45527211 chr21:45527197-45527206 chr21:45527197-45527205
12	ATF2	chr21:45526752-45527092	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr21:45526728-45527544	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr21:45526754-45526986	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr21:45526703-45527460	GM12878	blood:	n/a	n/a
16	POLR2A	chr21:45526750-45527396	HepG2	liver:	n/a	n/a
17	ELF1	chr21:45526747-45527567	K562	blood:	n/a	chr21:45527198-45527207 chr21:45527028-45527040 chr21:45527197-45527208 chr21:45527197-45527208
18	TAF1	chr21:45526705-45527113	K562	blood:	n/a	n/a
19	POLR2A	chr21:45526734-45527509	K562	blood:	n/a	n/a
20	CBX3	chr21:45526595-45527399	K562	blood:	n/a	n/a
21	MYC	chr21:45526740-45527682	A549	lung:	n/a	chr21:45527429-45527438 chr21:45527024-45527034
22	TFAP2C	chr21:45526757-45527398	Hela-S3	cervix:	n/a	n/a
23	HEY1	chr21:45526699-45527518	K562	blood:	n/a	chr21:45527224-45527239
24	POLR2A	chr21:45526712-45527428	HCT-116	colon:	n/a	n/a
25	YY1	chr21:45526742-45527548	GM12878	blood:	n/a	chr21:45527325-45527334 chr21:45527212-45527226 chr21:45527256-45527267
26	MAX	chr21:45526684-45527841	HepG2	liver:	n/a	chr21:45527429-45527438 chr21:45527024-45527034
27	MAX	chr21:45526704-45527873	HCT-116	colon:	n/a	chr21:45527429-45527438 chr21:45527024-45527034
28	PML	chr21:45526646-45527602	K562	blood:	n/a	n/a
29	POLR2A	chr21:45526743-45527803	GM12878	blood:	n/a	n/a
30	HEY1	chr21:45526726-45527472	K562	blood:	n/a	chr21:45527224-45527239
31	MAX	chr21:45526651-45527962	ECC-1	luminal epithelium:	n/a	chr21:45527429-45527438 chr21:45527024-45527034
32	POLR2A	chr21:45526572-45527638	H1-hESC	embryonic stem cell:	n/a	n/a
33	HMGN3	chr21:45526660-45527794	K562	blood:	n/a	n/a
34	POLR2A	chr21:45526746-45527516	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr21:45526720-45527469	GM12891	blood:	n/a	n/a
36	POLR2A	chr21:45526755-45527725	K562	blood:	n/a	n/a
37	HA-E2F1	chr21:45526593-45527931	MCF-7	breast:	n/a	chr21:45527325-45527334 chr21:45527218-45527233
38	POLR2A	chr21:45526701-45527528	HL-60	blood:	n/a	n/a
39	CREB1	chr21:45526747-45527813	HepG2	liver:	n/a	n/a
40	MTA3	chr21:45526602-45527975	GM12878	blood:	n/a	n/a
41	MAX	chr21:45526739-45527887	HCT-116	colon:	n/a	chr21:45527429-45527438 chr21:45527024-45527034
42	PAX5	chr21:45526513-45527431	GM12878	blood:	n/a	chr21:45527165-45527174
43	POLR2A	chr21:45526629-45527791	MCF-7	breast:	n/a	n/a
44	SIN3AK20	chr21:45526594-45528590	MCF-7	breast:	n/a	n/a
45	RUNX3	chr21:45526733-45527595	GM12878	blood:	n/a	n/a
46	MAFK	chr21:45526749-45526928	HepG2	liver:	n/a	n/a
47	POLR2A	chr21:45526719-45527756	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr21:45526751-45527783	K562	blood:	n/a	n/a
49	POLR2A	chr21:45526712-45527842	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr21:45526708-45527475	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45430507..45434109-chr21:45525660..45529122,6	K562	blood:
2	chr21:45429712..45433999-chr21:45522896..45529122,10	K562	blood:
3	chr21:45525373..45527219-chr21:45757637..45759650,2	K562	blood:
4	chr21:45526020..45528445-chr21:46493573..46495387,2	K562	blood:
5	chr21:45525797..45531105-chr21:45550576..45555096,10	MCF-7	breast:
6	chr21:45443004..45445894-chr21:45525431..45527091,3	K562	blood:
7	chr21:45525933..45529754-chr21:45756924..45759975,4	MCF-7	breast:
8	chr21:45430262..45433765-chr21:45524105..45528370,12	MCF-7	breast:
9	chr21:45514673..45516174-chr21:45524050..45526937,2	MCF-7	breast:
10	chr21:45443004..45445894-chr21:45525520..45527091,2	K562	blood:
11	chr21:45525708..45535025-chr21:45544493..45558414,30	MCF-7	breast:
12	chr21:45525043..45527455-chr21:45658553..45661169,2	K562	blood:
13	chr21:45430220..45433985-chr21:45525454..45528690,3	MCF-7	breast:
14	chr21:45228402..45230320-chr21:45526070..45527844,2	MCF-7	breast:

Variant related genes	Relation type
PWP2	TF binding region
ENSG00000197381	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers 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	39 gene(s)	inside rSNPs	diseases
4	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv984522	chr21:45514579-45542066	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
16	esv3322338	chr21:45526049-45528897	Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45495600-45526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr21:45517400-45527600	Weak transcription	Fetal Brain Male	brain
3	chr21:45520200-45527600	Weak transcription	Fetal Heart	heart
4	chr21:45522400-45526800	Weak transcription	NH-A	brain
5	chr21:45522600-45526800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr21:45523000-45526800	Weak transcription	Stomach Mucosa	stomach
7	chr21:45523600-45526800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr21:45523800-45526800	Weak transcription	Aorta	Aorta
9	chr21:45523800-45526800	Weak transcription	Esophagus	oesophagus
10	chr21:45524000-45526800	Weak transcription	Gastric	stomach
11	chr21:45524000-45526800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr21:45524000-45526800	Weak transcription	Small Intestine	intestine
13	chr21:45524000-45526800	Weak transcription	HSMMtube	muscle
14	chr21:45524200-45526800	Weak transcription	Lung	lung
15	chr21:45524200-45526800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr21:45525000-45526800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr21:45526400-45527000	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr21:45526400-45527800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:45526400-45528000	Active TSS	Brain Anterior Caudate	brain
20	chr21:45526400-45528600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr21:45526400-45528600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr21:45526400-45528600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr21:45526600-45526800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr21:45526600-45526800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:45526600-45526800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:45526600-45526800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr21:45526600-45526800	Enhancers	Primary B cells from peripheral blood	blood
28	chr21:45526600-45526800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr21:45526600-45526800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr21:45526600-45526800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr21:45526600-45526800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr21:45526600-45526800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr21:45526600-45526800	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr21:45526600-45526800	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr21:45526600-45526800	Active TSS	Fetal Intestine Small	intestine
36	chr21:45526600-45526800	Flanking Active TSS	Left Ventricle	heart
37	chr21:45526600-45526800	Active TSS	Right Atrium	heart
38	chr21:45526600-45526800	Enhancers	Spleen	Spleen
39	chr21:45526600-45526800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr21:45526600-45527000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:45526600-45527000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr21:45526600-45527000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:45526600-45527000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr21:45526600-45527000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr21:45526600-45527000	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr21:45526600-45527000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr21:45526600-45527000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr21:45526600-45527000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr21:45526600-45527000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr21:45526600-45527000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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