Variant report

Variant	rs545262693
Chromosome Location	chr21:46293188-46293189
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	POLR2A	chr21:46293092-46294214	A549	lung:	n/a	n/a
2	HMGN3	chr21:46292794-46294626	K562	blood:	n/a	n/a
3	MAX	chr21:46292655-46293320	H1-hESC	embryonic stem cell:	n/a	chr21:46293143-46293152
4	POLR2A	chr21:46291742-46295578	HUVEC	blood vessel:	n/a	n/a
5	PAX5	chr21:46293172-46294097	GM12892	blood:	n/a	n/a
6	TAF1	chr21:46293045-46293285	SK-N-SH	brain:	n/a	n/a
7	RCOR1	chr21:46292450-46293189	K562	blood:	n/a	n/a
8	POLR2A	chr21:46292255-46294155	HepG2	liver:	n/a	n/a
9	E2F6	chr21:46292971-46294673	K562	blood:	n/a	chr21:46294127-46294136 chr21:46293945-46293954 chr21:46294125-46294134 chr21:46293245-46293252 chr21:46293743-46293752
10	POLR2A	chr21:46291683-46295709	HUVEC	blood vessel:	n/a	n/a
11	ZC3H11A	chr21:46293170-46293282	K562	blood:	n/a	n/a
12	MYC	chr21:46292804-46293201	NB4	blood:	n/a	chr21:46293143-46293152
13	MAX	chr21:46292245-46294644	K562	blood:	n/a	chr21:46293675-46293685 chr21:46293143-46293152 chr21:46292636-46292646
14	MXI1	chr21:46293007-46293189	H1-hESC	embryonic stem cell:	n/a	n/a
15	MYC	chr21:46292285-46294491	K562	blood:	n/a	chr21:46293675-46293685 chr21:46293143-46293152 chr21:46292636-46292646
16	MAX	chr21:46292922-46293315	H1-hESC	embryonic stem cell:	n/a	chr21:46293143-46293152
17	MAX	chr21:46292980-46293203	HepG2	liver:	n/a	chr21:46293143-46293152
18	POLR2A	chr21:46293150-46294239	MCF-7	breast:	n/a	n/a
19	TCF12	chr21:46292842-46293365	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr21:46293100-46295496	GM18951	blood:	n/a	n/a
21	MAX	chr21:46291613-46293369	MCF-7	breast:	n/a	chr21:46293143-46293152 chr21:46292636-46292646
22	SIN3AK20	chr21:46292683-46294181	PANC-1	pancreas:	n/a	n/a
23	TAF1	chr21:46292797-46294173	HepG2	liver:	n/a	n/a
24	REST	chr21:46292246-46294445	H1-neurons	neurons:	n/a	chr21:46293669-46293682 chr21:46293986-46293999 chr21:46293324-46293334 chr21:46294067-46294085 chr21:46292727-46292740 chr21:46293666-46293679 chr21:46293666-46293679 chr21:46293939-46293952 chr21:46293233-46293243 chr21:46292724-46292737 chr21:46292283-46292291 chr21:46293669-46293682
25	POLR2A	chr21:46291717-46293758	HepG2	liver:	n/a	n/a
26	SIN3AK20	chr21:46291542-46294829	MCF-7	breast:	n/a	n/a
27	SIN3AK20	chr21:46292318-46293796	K562	blood:	n/a	n/a
28	POLR2A	chr21:46292990-46293358	HepG2	liver:	n/a	n/a
29	YY1	chr21:46292779-46293217	K562	blood:	n/a	chr21:46292986-46292997
30	POLR2A	chr21:46291666-46295051	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr21:46293135-46295590	GM19099	blood:	n/a	n/a
32	ZBTB7A	chr21:46292875-46294377	K562	blood:	n/a	n/a
33	POLR2A	chr21:46292937-46294227	HepG2	liver:	n/a	n/a
34	ELF1	chr21:46291498-46294454	MCF-7	breast:	n/a	chr21:46293611-46293624 chr21:46293719-46293731
35	TAF1	chr21:46292917-46294176	HepG2	liver:	n/a	n/a
36	MXI1	chr21:46292976-46294128	HepG2	liver:	n/a	n/a
37	MAX	chr21:46292497-46293335	ECC-1	luminal epithelium:	n/a	chr21:46293143-46293152 chr21:46292636-46292646
38	POLR2A	chr21:46293090-46293200	Hela-S3	cervix:	n/a	n/a
39	MAZ	chr21:46293045-46294426	K562	blood:	n/a	chr21:46293675-46293685 chr21:46293143-46293152
40	ELF1	chr21:46292347-46295073	GM12878	blood:	n/a	chr21:46293611-46293624 chr21:46293719-46293731
41	UBTF	chr21:46292377-46294651	K562	blood:	n/a	n/a
42	HCFC1	chr21:46291575-46294521	Hela-S3	cervix:	n/a	n/a
43	SMARCB1	chr21:46292533-46295007	Hela-S3	cervix:	n/a	n/a
44	GABPA	chr21:46292971-46293965	K562	blood:	n/a	chr21:46293207-46293216 chr21:46293742-46293753 chr21:46293946-46293955 chr21:46293944-46293955 chr21:46293744-46293753 chr21:46293944-46293958 chr21:46293742-46293756 chr21:46293941-46293955 chr21:46293739-46293753
45	HEY1	chr21:46293168-46293354	HepG2	liver:	n/a	chr21:46293212-46293227
46	SIN3AK20	chr21:46292952-46293193	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr21:46292310-46294203	H1-neurons	neurons:	n/a	n/a
48	MAX	chr21:46291796-46293200	Hela-S3	cervix:	n/a	chr21:46293143-46293152 chr21:46292636-46292646
49	NR2F2	chr21:46291748-46295131	MCF-7	breast:	n/a	n/a
50	UBTF	chr21:46292614-46294348	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46231216..46239677-chr21:46289090..46295542,14	K562	blood:
2	chr21:46232702..46239829-chr21:46289967..46296620,21	MCF-7	breast:
3	chr21:46288744..46296879-chr21:46346201..46354260,26	MCF-7	breast:
4	chr21:46288400..46294755-chr21:46304910..46312238,10	K562	blood:
5	chr21:46291916..46297365-chr21:46358001..46363812,14	MCF-7	breast:
6	chr21:46220413..46223818-chr21:46291771..46295209,8	K562	blood:
7	chr21:46292072..46295985-chr21:46328607..46334685,5	MCF-7	breast:
8	chr21:46280336..46283440-chr21:46291266..46293624,3	K562	blood:
9	chr21:46220930..46225769-chr21:46292170..46294469,5	K562	blood:
10	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
11	chr21:46231789..46243695-chr21:46286819..46295664,23	MCF-7	breast:
12	chr21:46235517..46239255-chr21:46289829..46295572,6	K562	blood:
13	chr21:46292697..46294233-chr21:46492293..46494359,2	K562	blood:
14	chr21:46292148..46294278-chr21:46308549..46311972,5	MCF-7	breast:
15	chr21:46292272..46294074-chr21:46492667..46495373,2	MCF-7	breast:
16	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:
17	chr21:46194730..46196311-chr21:46292616..46294794,2	K562	blood:

Variant related genes	Relation type
PTTG1IP	TF binding region
ENSG00000235374	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000183250	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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv913964	chr21:46223847-46298869	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv913962	chr21:46223847-46321172	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv913965	chr21:46223847-46321172	Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv1058550	chr21:46227163-46317934	Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv913968	chr21:46249752-46301008	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1060233	chr21:46254075-46323401	Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
12	nsv544479	chr21:46280467-46323401	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv470907	chr21:46283669-46306161	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
14	nsv459299	chr21:46283669-46311264	Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv459300	chr21:46283669-46311264	Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv587814	chr21:46283669-46311264	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	esv3409023	chr21:46292349-46295097	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	15 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	chr21:46289800-46296000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr21:46290600-46293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:46290600-46293200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:46291200-46295200	Active TSS	Aorta	Aorta
5	chr21:46291600-46293200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr21:46291600-46293200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr21:46291600-46293200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr21:46291800-46294200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr21:46291800-46294200	Active TSS	Fetal Intestine Large	intestine
10	chr21:46291800-46295400	Active TSS	Psoas Muscle	Psoas
11	chr21:46292000-46295000	Active TSS	Ovary	ovary
12	chr21:46292000-46295200	Active TSS	Lung	lung
13	chr21:46292200-46294000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr21:46292200-46294200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:46292200-46294400	Active TSS	A549	lung
16	chr21:46292200-46294600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr21:46292200-46295200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr21:46292200-46295200	Active TSS	Left Ventricle	heart
19	chr21:46292200-46295400	Active TSS	Right Atrium	heart
20	chr21:46292400-46294000	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr21:46292400-46294000	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr21:46292400-46294000	Active TSS	Muscle Satellite Cultured Cells	--
23	chr21:46292400-46294000	Active TSS	HUVEC	blood vessel
24	chr21:46292400-46294200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:46292400-46294200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:46292400-46294200	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr21:46292400-46294200	Active TSS	Hela-S3	cervix
28	chr21:46292400-46294400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr21:46292400-46294400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:46292400-46294400	Active TSS	Fetal Intestine Small	intestine
31	chr21:46292400-46294400	Active TSS	Small Intestine	intestine
32	chr21:46292400-46294400	Active TSS	NHDF-Ad	bronchial
33	chr21:46292400-46294400	Active TSS	NHLF	lung
34	chr21:46292400-46294600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr21:46292400-46294600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr21:46292400-46294600	Active TSS	Stomach Mucosa	stomach
37	chr21:46292400-46294800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:46292400-46294800	Active TSS	Colon Smooth Muscle	Colon
39	chr21:46292400-46294800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr21:46292400-46294800	Active TSS	Fetal Kidney	kidney
41	chr21:46292400-46294800	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr21:46292400-46294800	Active TSS	HSMMtube	muscle
43	chr21:46292600-46293200	Active TSS	Fetal Brain Male	brain
44	chr21:46292600-46293200	Active TSS	Fetal Heart	heart
45	chr21:46292600-46293400	Active TSS	Brain Germinal Matrix	brain
46	chr21:46292600-46294000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:46292600-46294000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:46292600-46294000	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr21:46292600-46294000	Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr21:46292600-46294000	Active TSS	Fetal Stomach	stomach

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