Variant report

Variant	rs575583194
Chromosome Location	chr21:45526908-45526909
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	GABPA	chr21:45526876-45528285	K562	blood:	n/a	chr21:45527677-45527686 chr21:45527322-45527331 chr21:45527674-45527683 chr21:45527024-45527033
2	NFATC1	chr21:45526652-45527480	GM12878	blood:	n/a	n/a
3	CTCF	chr21:45526900-45527050	HVMF	connective:	n/a	n/a
4	GABPA	chr21:45526903-45527560	HL-60	blood:	n/a	chr21:45527322-45527331 chr21:45527024-45527033
5	FOS	chr21:45526851-45527273	MCF10A-Er-Src	breast:	n/a	n/a
6	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
7	TAF1	chr21:45526715-45527078	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr21:45526466-45527763	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr21:45526673-45527539	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr21:45526839-45527074	HepG2	liver:	n/a	n/a
11	POLR2A	chr21:45526848-45527455	GM12878	blood:	n/a	n/a
12	IRF1	chr21:45526778-45527633	K562	blood:	n/a	chr21:45527088-45527102 chr21:45527214-45527228 chr21:45527023-45527037
13	TFAP2A	chr21:45526776-45527440	Hela-S3	cervix:	n/a	chr21:45527084-45527095 chr21:45527084-45527095 chr21:45527084-45527095 chr21:45527084-45527096
14	EGR1	chr21:45526824-45527422	K562	blood:	n/a	chr21:45527211-45527225 chr21:45527024-45527034 chr21:45527177-45527184 chr21:45527355-45527364 chr21:45527095-45527108 chr21:45527019-45527032 chr21:45527199-45527208 chr21:45527216-45527223 chr21:45527165-45527174 chr21:45527391-45527404
15	ZNF384	chr21:45526373-45527377	K562	blood:	n/a	n/a
16	POLR2A	chr21:45526681-45528393	MCF-7	breast:	n/a	n/a
17	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
18	POLR2A	chr21:45526779-45527561	GM12892	blood:	n/a	n/a
19	STAT1	chr21:45526855-45527317	GM12878	blood:	n/a	chr21:45527196-45527205 chr21:45527191-45527211 chr21:45527191-45527211 chr21:45527197-45527206 chr21:45527197-45527205
20	SMARCB1	chr21:45526824-45528070	Hela-S3	cervix:	n/a	n/a
21	POU2F2	chr21:45526707-45527363	GM12891	blood:	n/a	n/a
22	POLR2A	chr21:45526653-45527392	PANC-1	pancreas:	n/a	n/a
23	STAT5A	chr21:45526599-45527756	GM12878	blood:	n/a	chr21:45527196-45527205 chr21:45527191-45527211 chr21:45527191-45527211 chr21:45527197-45527206 chr21:45527197-45527205
24	POLR2A	chr21:45526780-45527083	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr21:45526828-45527600	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr21:45526780-45526930	HVMF	connective:	n/a	n/a
27	GABPA	chr21:45526893-45527547	SK-N-SH	brain:	n/a	chr21:45527322-45527331 chr21:45527024-45527033
28	EGR1	chr21:45526816-45527498	K562	blood:	n/a	chr21:45527211-45527225 chr21:45527024-45527034 chr21:45527177-45527184 chr21:45527355-45527364 chr21:45527095-45527108 chr21:45527019-45527032 chr21:45527199-45527208 chr21:45527216-45527223 chr21:45527165-45527174 chr21:45527391-45527404
29	GTF2F1	chr21:45526762-45527418	K562	blood:	n/a	n/a
30	HCFC1	chr21:45526809-45527694	K562	blood:	n/a	n/a
31	ATF2	chr21:45526752-45527092	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr21:45526822-45528213	HepG2	liver:	n/a	n/a
33	POLR2A	chr21:45526728-45527544	H1-neurons	neurons:	n/a	n/a
34	POLR2A	chr21:45526829-45527761	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr21:45526754-45526986	H1-hESC	embryonic stem cell:	n/a	n/a
36	ATF2	chr21:45526703-45527460	GM12878	blood:	n/a	n/a
37	POLR2A	chr21:45526750-45527396	HepG2	liver:	n/a	n/a
38	POLR2A	chr21:45526783-45527518	GM10847	blood:	n/a	n/a
39	ELK1	chr21:45526880-45527352	K562	blood:	n/a	n/a
40	ELF1	chr21:45526747-45527567	K562	blood:	n/a	chr21:45527198-45527207 chr21:45527028-45527040 chr21:45527197-45527208 chr21:45527197-45527208
41	TAF1	chr21:45526705-45527113	K562	blood:	n/a	n/a
42	POLR2A	chr21:45526734-45527509	K562	blood:	n/a	n/a
43	POLR2A	chr21:45526788-45527047	GM12891	blood:	n/a	n/a
44	CCNT2	chr21:45526783-45527620	K562	blood:	n/a	n/a
45	CBX3	chr21:45526595-45527399	K562	blood:	n/a	n/a
46	MYC	chr21:45526740-45527682	A549	lung:	n/a	chr21:45527429-45527438 chr21:45527024-45527034
47	TFAP2C	chr21:45526757-45527398	Hela-S3	cervix:	n/a	n/a
48	HEY1	chr21:45526699-45527518	K562	blood:	n/a	chr21:45527224-45527239
49	POLR2A	chr21:45526712-45527428	HCT-116	colon:	n/a	n/a
50	BHLHE40	chr21:45526807-45527515	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	chr21:45526873..45527551-chr6:26271493..26272199,2	Hela-S3	cervix:
15	chr21:45228402..45230320-chr21:45526070..45527844,2	MCF-7	breast:

Variant related genes	Relation type
PWP2	TF binding region
ENSG00000160218	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000197381	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	chr21:45517400-45527600	Weak transcription	Fetal Brain Male	brain
2	chr21:45520200-45527600	Weak transcription	Fetal Heart	heart
3	chr21:45526400-45527000	Flanking Active TSS	Primary T cells from cord blood	blood
4	chr21:45526400-45527800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:45526400-45528000	Active TSS	Brain Anterior Caudate	brain
6	chr21:45526400-45528600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr21:45526400-45528600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr21:45526400-45528600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr21:45526600-45527000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:45526600-45527000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:45526600-45527000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:45526600-45527000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
13	chr21:45526600-45527000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr21:45526600-45527000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr21:45526600-45527000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr21:45526600-45527000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr21:45526600-45527000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr21:45526600-45527000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr21:45526600-45527000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr21:45526600-45527000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr21:45526600-45527000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr21:45526600-45527000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr21:45526600-45527000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
24	chr21:45526600-45527000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr21:45526600-45527000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr21:45526600-45527000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:45526600-45527000	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr21:45526600-45527000	Flanking Active TSS	Liver	Liver
29	chr21:45526600-45527000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr21:45526600-45527000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr21:45526600-45527000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr21:45526600-45527000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr21:45526600-45527000	Flanking Active TSS	Fetal Muscle Trunk	muscle
34	chr21:45526600-45527000	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr21:45526600-45527000	Flanking Active TSS	Placenta	Placenta
36	chr21:45526600-45527000	Flanking Active TSS	Fetal Thymus	thymus
37	chr21:45526600-45527000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr21:45526600-45527000	Flanking Active TSS	Right Ventricle	heart
39	chr21:45526600-45527000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr21:45526600-45527000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr21:45526600-45527000	Flanking Active TSS	Dnd41	blood
42	chr21:45526600-45527000	Flanking Active TSS	K562	blood
43	chr21:45526600-45527400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr21:45526600-45527400	Active TSS	Stomach Smooth Muscle	stomach
45	chr21:45526600-45527600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:45526600-45527600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr21:45526600-45527600	Active TSS	Brain Germinal Matrix	brain
48	chr21:45526600-45527600	Active TSS	Fetal Stomach	stomach
49	chr21:45526600-45527600	Active TSS	HUVEC	blood vessel
50	chr21:45526600-45527800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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