Variant report

Variant	rs397730432
Chromosome Location	chr21:45527049-45527050
allele	-/C
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	YY1	chr21:45526984-45527552	GM12892	blood:	n/a	chr21:45527325-45527334 chr21:45527212-45527226 chr21:45527256-45527267
2	GABPA	chr21:45526876-45528285	K562	blood:	n/a	chr21:45527677-45527686 chr21:45527322-45527331 chr21:45527674-45527683 chr21:45527024-45527033
3	NFATC1	chr21:45526652-45527480	GM12878	blood:	n/a	n/a
4	CTCF	chr21:45526900-45527050	HVMF	connective:	n/a	n/a
5	MAX	chr21:45527007-45527534	A549	lung:	n/a	chr21:45527429-45527438 chr21:45527024-45527034
6	GABPA	chr21:45526903-45527560	HL-60	blood:	n/a	chr21:45527322-45527331 chr21:45527024-45527033
7	MYC	chr21:45526946-45527665	K562	blood:	n/a	chr21:45527429-45527438 chr21:45527024-45527034
8	RFX5	chr21:45527007-45527257	GM12878	blood:	n/a	n/a
9	FOS	chr21:45526851-45527273	MCF10A-Er-Src	breast:	n/a	n/a
10	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
11	TAF1	chr21:45526715-45527078	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr21:45526466-45527763	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr21:45526673-45527539	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr21:45526839-45527074	HepG2	liver:	n/a	n/a
15	POLR2A	chr21:45526848-45527455	GM12878	blood:	n/a	n/a
16	IRF1	chr21:45526778-45527633	K562	blood:	n/a	chr21:45527088-45527102 chr21:45527214-45527228 chr21:45527023-45527037
17	TFAP2A	chr21:45526776-45527440	Hela-S3	cervix:	n/a	chr21:45527084-45527095 chr21:45527084-45527095 chr21:45527084-45527095 chr21:45527084-45527096
18	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
19	EGR1	chr21:45526988-45527728	MCF-7	breast:	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
20	ZNF384	chr21:45526373-45527377	K562	blood:	n/a	n/a
21	POLR2A	chr21:45526681-45528393	MCF-7	breast:	n/a	n/a
22	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
23	POLR2A	chr21:45526779-45527561	GM12892	blood:	n/a	n/a
24	STAT1	chr21:45526855-45527317	GM12878	blood:	n/a	chr21:45527196-45527205 chr21:45527191-45527211 chr21:45527191-45527211 chr21:45527197-45527206 chr21:45527197-45527205
25	SMARCB1	chr21:45526824-45528070	Hela-S3	cervix:	n/a	n/a
26	POU2F2	chr21:45526707-45527363	GM12891	blood:	n/a	n/a
27	POLR2A	chr21:45526653-45527392	PANC-1	pancreas:	n/a	n/a
28	STAT5A	chr21:45526599-45527756	GM12878	blood:	n/a	chr21:45527196-45527205 chr21:45527191-45527211 chr21:45527191-45527211 chr21:45527197-45527206 chr21:45527197-45527205
29	POLR2A	chr21:45526780-45527083	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr21:45526828-45527600	HUVEC	blood vessel:	n/a	n/a
31	GABPA	chr21:45526893-45527547	SK-N-SH	brain:	n/a	chr21:45527322-45527331 chr21:45527024-45527033
32	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
33	GTF2F1	chr21:45526762-45527418	K562	blood:	n/a	n/a
34	HCFC1	chr21:45526809-45527694	K562	blood:	n/a	n/a
35	ATF2	chr21:45526752-45527092	H1-hESC	embryonic stem cell:	n/a	n/a
36	MXI1	chr21:45526822-45528213	HepG2	liver:	n/a	n/a
37	POLR2A	chr21:45526728-45527544	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr21:45526829-45527761	MCF10A-Er-Src	breast:	n/a	n/a
39	ATF2	chr21:45526703-45527460	GM12878	blood:	n/a	n/a
40	POLR2A	chr21:45526750-45527396	HepG2	liver:	n/a	n/a
41	POLR2A	chr21:45526783-45527518	GM10847	blood:	n/a	n/a
42	STAT3	chr21:45527046-45527312	MCF10A-Er-Src	breast:	n/a	chr21:45527195-45527206 chr21:45527196-45527205 chr21:45527191-45527211 chr21:45527191-45527211 chr21:45527197-45527206 chr21:45527197-45527205
43	RFX5	chr21:45526932-45527322	Hela-S3	cervix:	n/a	n/a
44	ELK1	chr21:45526880-45527352	K562	blood:	n/a	n/a
45	ZNF143	chr21:45527001-45527389	Hela-S3	cervix:	n/a	chr21:45527322-45527332
46	MYC	chr21:45526923-45527771	MCF10A-Er-Src	breast:	n/a	chr21:45527429-45527438 chr21:45527024-45527034
47	ELF1	chr21:45526747-45527567	K562	blood:	n/a	chr21:45527198-45527207 chr21:45527028-45527040 chr21:45527197-45527208 chr21:45527197-45527208
48	TAF1	chr21:45526705-45527113	K562	blood:	n/a	n/a
49	POLR2A	chr21:45526734-45527509	K562	blood:	n/a	n/a
50	CCNT2	chr21:45526783-45527620	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45527029-45527079	HPAEpiC	pulmonary alveolar:	n/a
2	chr21:45527029-45527079	GM12891	blood:	n/a
3	chr21:45527029-45527079	HL-60	blood:	n/a
4	chr21:45527029-45527079	GM06990	blood:	n/a
5	chr21:45527029-45527079	SKMC	muscle:	n/a
6	chr21:45527029-45527079	Hepatocyte	liver:	n/a
7	chr21:45527029-45527079	AG09319	gingival:	n/a
8	chr21:45527029-45527079	T-47D	breast:	n/a
9	chr21:45527029-45527079	IMR90	lung:	fetal
10	chr21:45527029-45527079	HRE	kidney:	n/a
11	chr21:45527029-45527079	Jurkat	blood:	n/a
12	chr21:45527029-45527079	MCF-7	breast:	n/a
13	chr21:45527029-45527079	HCPEpiC	choroid plexus:	n/a
14	chr21:45527029-45527079	MCF10A-Er-Src	breast:	n/a
15	chr21:45527029-45527079	AG04450	lung:	fetal
16	chr21:45527029-45527079	HCF	heart:	n/a
17	chr21:45527029-45527079	HEK293	kidney:	embryo
18	chr21:45527029-45527079	HNPCEpiC	eye:	n/a
19	chr21:45527029-45527079	HIPEpiC	eye:	n/a
20	chr21:45527029-45527079	RPTEC	kidney:	n/a
21	chr21:45527029-45527079	BE2_C	brain:	n/a
22	chr21:45527029-45527079	NH-A	brain:	n/a
23	chr21:45527029-45527079	Caco-2	colon:	n/a
24	chr21:45527029-45527079	PFSK-1	brain:	n/a
25	chr21:45527029-45527079	HCT-116	colon:	n/a
26	chr21:45527029-45527079	HUVEC	blood vessel:	n/a
27	chr21:45527029-45527079	CMK	blood:	n/a
28	chr21:45527029-45527079	H1-hESC	embryonic stem cell:	embryo
29	chr21:45527029-45527079	AG10803	skin:	n/a
30	chr21:45527029-45527079	ECC-1	luminal epithelium:	n/a
31	chr21:45527029-45527079	HRPEpiC	eye:	n/a
32	chr21:45527029-45527079	ProgFib	skin:	n/a
33	chr21:45527029-45527079	HRCEpiC	kidney:	n/a
34	chr21:45527029-45527079	AG04449	skin:	fetal
35	chr21:45527029-45527079	SAEC	small airway:	n/a
36	chr21:45527029-45527079	ovcar-3	ovarian:	n/a
37	chr21:45527029-45527079	AoSMC	blood vessel:	n/a
38	chr21:45527029-45527079	AG09309	skin:	n/a
39	chr21:45527029-45527079	SK-N-SH_RA	brain:	n/a
40	chr21:45527029-45527079	Hela-S3	cervix:	n/a
41	chr21:45527029-45527079	HMEC	breast:	n/a
42	chr21:45527029-45527079	GM19239	blood:	n/a
43	chr21:45527029-45527079	K562	blood:	n/a
44	chr21:45527029-45527079	LNCaP	prostate:	n/a
45	chr21:45527029-45527079	HAEpiC	amniotic membrane:	n/a
46	chr21:45527029-45527079	HEEpiC	esophagus:	n/a
47	chr21:45527029-45527079	GM12892	blood:	n/a
48	chr21:45527029-45527079	SK-N-SH	brain:	n/a
49	chr21:45527029-45527079	GM12878	blood:	n/a
50	chr21:45527029-45527079	SK-N-MC	brain:	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	chr21:45443004..45445894-chr21:45525520..45527091,2	K562	blood:
10	chr21:45525708..45535025-chr21:45544493..45558414,30	MCF-7	breast:
11	chr21:45525043..45527455-chr21:45658553..45661169,2	K562	blood:
12	chr21:45430220..45433985-chr21:45525454..45528690,3	MCF-7	breast:
13	chr21:45526873..45527551-chr6:26271493..26272199,2	Hela-S3	cervix:
14	chr21:45228402..45230320-chr21:45526070..45527844,2	MCF-7	breast:

Variant related genes	Relation type
PWP2	TF binding region
PWP2	CpG island
ENSG00000160218	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000160221	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000215458	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000241945	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 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
17	esv1443466	chr21:45527048-45527049	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	10 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	chr21:45526400-45527800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr21:45526400-45528000	Active TSS	Brain Anterior Caudate	brain
5	chr21:45526400-45528600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr21:45526400-45528600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr21:45526400-45528600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr21:45526600-45527400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr21:45526600-45527400	Active TSS	Stomach Smooth Muscle	stomach
10	chr21:45526600-45527600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr21:45526600-45527600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr21:45526600-45527600	Active TSS	Brain Germinal Matrix	brain
13	chr21:45526600-45527600	Active TSS	Fetal Stomach	stomach
14	chr21:45526600-45527600	Active TSS	HUVEC	blood vessel
15	chr21:45526600-45527800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:45526600-45527800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr21:45526600-45527800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr21:45526600-45527800	Active TSS	Muscle Satellite Cultured Cells	--
19	chr21:45526600-45527800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr21:45526600-45527800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr21:45526600-45527800	Active TSS	Brain Cingulate Gyrus	brain
22	chr21:45526600-45527800	Active TSS	Brain Hippocampus Middle	brain
23	chr21:45526600-45527800	Active TSS	Colonic Mucosa	Colon
24	chr21:45526600-45527800	Active TSS	Colon Smooth Muscle	Colon
25	chr21:45526600-45527800	Active TSS	Duodenum Mucosa	Duodenum
26	chr21:45526600-45527800	Active TSS	Fetal Lung	lung
27	chr21:45526600-45527800	Active TSS	Psoas Muscle	Psoas
28	chr21:45526600-45527800	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr21:45526600-45527800	Active TSS	Thymus	Thymus
30	chr21:45526600-45527800	Active TSS	GM12878-XiMat	blood
31	chr21:45526600-45527800	Active TSS	Hela-S3	cervix
32	chr21:45526600-45527800	Active TSS	HMEC	breast
33	chr21:45526600-45528000	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr21:45526600-45528000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr21:45526600-45528000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:45526600-45528000	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr21:45526600-45528000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr21:45526600-45528000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr21:45526600-45528000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:45526600-45528000	Active TSS	Brain Angular Gyrus	brain
41	chr21:45526600-45528000	Active TSS	Fetal Brain Female	brain
42	chr21:45526600-45528000	Active TSS	Fetal Kidney	kidney
43	chr21:45526600-45528000	Active TSS	Ovary	ovary
44	chr21:45526600-45528000	Active TSS	Pancreas	Pancrea
45	chr21:45526600-45528000	Active TSS	HSMM	muscle
46	chr21:45526600-45528000	Active TSS	NHDF-Ad	bronchial
47	chr21:45526600-45528000	Active TSS	NHEK	skin
48	chr21:45526600-45528000	Active TSS	NHLF	lung
49	chr21:45526600-45528000	Active TSS	Osteobl	bone
50	chr21:45526600-45528200	Active TSS	ES-WA7 Cell Line	embryonic stem cell

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