Variant report

Variant	rs235304
Chromosome Location	chr21:46298241-46298242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr21:46298038-46298920	HepG2	liver:	n/a	n/a
2	MAX	chr21:46298177-46298895	K562	blood:	n/a	n/a
3	HDAC2	chr21:46298042-46298443	HepG2	liver:	n/a	n/a
4	POLR2A	chr21:46297844-46298899	GM19099	blood:	n/a	n/a
5	TBP	chr21:46297846-46298928	HepG2	liver:	n/a	n/a
6	SPI1	chr21:46297996-46299070	HL-60	blood:	n/a	n/a
7	STAT3	chr21:46298111-46298365	MCF10A-Er-Src	breast:	n/a	n/a
8	SRF	chr21:46298116-46298347	HepG2	liver:	n/a	chr21:46298190-46298208
9	SP1	chr21:46297887-46298250	GM12878	blood:	n/a	n/a
10	RXRA	chr21:46297969-46298482	HepG2	liver:	n/a	n/a
11	YY1	chr21:46297886-46298247	H1-hESC	embryonic stem cell:	n/a	chr21:46298025-46298037
12	HNF4G	chr21:46298030-46298392	HepG2	liver:	n/a	n/a
13	SP1	chr21:46297830-46298961	HepG2	liver:	n/a	n/a
14	JUND	chr21:46297930-46298395	HepG2	liver:	n/a	n/a
15	CEBPD	chr21:46298038-46298323	HepG2	liver:	n/a	n/a
16	ELF1	chr21:46298020-46298390	HepG2	liver:	n/a	n/a
17	MAX	chr21:46297960-46298964	HepG2	liver:	n/a	n/a
18	NR2F2	chr21:46298027-46298498	HepG2	liver:	n/a	n/a
19	STAT3	chr21:46298160-46298359	MCF10A-Er-Src	breast:	n/a	n/a
20	MBD4	chr21:46298049-46298734	HepG2	liver:	n/a	n/a
21	IRF1	chr21:46298191-46299072	K562	blood:	n/a	n/a
22	BHLHE40	chr21:46297860-46298842	HepG2	liver:	n/a	n/a
23	FOXA2	chr21:46298117-46298397	HepG2	liver:	n/a	n/a
24	FOXA1	chr21:46298016-46298491	HepG2	liver:	n/a	n/a
25	MYC	chr21:46298055-46298957	MCF10A-Er-Src	breast:	n/a	n/a
26	NFIC	chr21:46298100-46298430	HepG2	liver:	n/a	n/a
27	TBL1XR1	chr21:46298203-46299138	K562	blood:	n/a	n/a
28	CEBPB	chr21:46298036-46299003	K562	blood:	n/a	n/a
29	ARID3A	chr21:46297883-46299174	HepG2	liver:	n/a	n/a
30	FOS	chr21:46298067-46299060	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr21:46298067-46299001	MCF10A-Er-Src	breast:	n/a	n/a
32	SRF	chr21:46298032-46298317	HepG2	liver:	n/a	chr21:46298190-46298208
33	POLR2A	chr21:46297830-46298951	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr21:46298141-46298379	HepG2	liver:	n/a	n/a
35	FOSL2	chr21:46297880-46298399	HepG2	liver:	n/a	n/a
36	FOXA1	chr21:46297885-46298521	HepG2	liver:	n/a	n/a
37	EP300	chr21:46297915-46298500	HepG2	liver:	n/a	n/a
38	FOXA1	chr21:46298145-46298368	T-47D	breast:	n/a	n/a
39	FOXA1	chr21:46297963-46298490	HepG2	liver:	n/a	n/a
40	SPI1	chr21:46298027-46298303	K562	blood:	n/a	n/a
41	FOSL2	chr21:46297887-46298378	HepG2	liver:	n/a	n/a
42	HEY1	chr21:46298172-46298439	HepG2	liver:	n/a	n/a
43	POLR2A	chr21:46298167-46298878	K562	blood:	n/a	n/a
44	CEBPB	chr21:46298048-46298248	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr21:46298166-46298785	HepG2	liver:	n/a	n/a
46	MAFK	chr21:46298141-46298779	HepG2	liver:	n/a	n/a
47	CEBPB	chr21:46298042-46298351	HepG2	liver:	n/a	n/a
48	MAFF	chr21:46298128-46298374	HepG2	liver:	n/a	n/a
49	RELA	chr21:46298167-46298914	GM19099	blood:	n/a	n/a
50	POLR2A	chr21:46298150-46298998	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46296431..46298855-chr21:46300114..46303046,3	K562	blood:
2	chr21:46296431..46298316-chr21:46299911..46303046,4	K562	blood:
3	chr21:46271436..46274134-chr21:46295574..46298347,2	K562	blood:
4	chr21:46235322..46239751-chr21:46297172..46299366,5	MCF-7	breast:
5	chr21:46297404..46300174-chr21:46309190..46311154,2	MCF-7	breast:
6	chr21:46255862..46258104-chr21:46297344..46299707,2	K562	blood:
7	chr21:46298053..46300206-chr21:46304270..46306029,2	K562	blood:
8	chr21:46295409..46298827-chr21:46311338..46314521,3	K562	blood:
9	chr21:46234037..46237833-chr21:46295592..46298389,4	K562	blood:
10	chr21:46296897..46299873-chr21:46358375..46361456,3	K562	blood:
11	chr21:46292609..46295460-chr21:46295899..46299289,8	K562	blood:
12	chr21:46297060..46299984-chr21:46306627..46308180,2	MCF-7	breast:
13	chr21:46296513..46298780-chr21:46329471..46332191,2	K562	blood:

No data

Variant related genes	Relation type
PTTG1IP	TF binding region
ENSG00000183250	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000160255	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs180314	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs183515	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs235300	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235301	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235303	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs235305	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs432317	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs441019	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46294400-46298600	Weak transcription	Small Intestine	intestine
2	chr21:46294800-46300600	Weak transcription	Fetal Kidney	kidney
3	chr21:46295200-46299600	Weak transcription	Brain Substantia Nigra	brain
4	chr21:46295200-46300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:46295200-46301200	Weak transcription	Pancreas	Pancrea
6	chr21:46295200-46301400	Weak transcription	Lung	lung
7	chr21:46295200-46302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:46295200-46304200	Weak transcription	Esophagus	oesophagus
9	chr21:46295400-46298400	Enhancers	HepG2	liver
10	chr21:46295400-46300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:46295600-46298400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr21:46295600-46298600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr21:46295600-46299600	Weak transcription	Brain Hippocampus Middle	brain
14	chr21:46295600-46299800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr21:46295600-46299800	Weak transcription	HSMMtube	muscle
16	chr21:46295600-46300200	Weak transcription	NH-A	brain
17	chr21:46295600-46300400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:46295600-46300600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr21:46295600-46300800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr21:46295600-46300800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
22	chr21:46295800-46299600	Weak transcription	Primary T cells from cord blood	blood
23	chr21:46295800-46300600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr21:46295800-46300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr21:46295800-46301200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr21:46295800-46301400	Weak transcription	Brain Anterior Caudate	brain
27	chr21:46295800-46303600	Enhancers	Primary B cells from cord blood	blood
28	chr21:46296000-46299400	Enhancers	Fetal Intestine Small	intestine
29	chr21:46296000-46299600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr21:46296000-46299800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr21:46296000-46299800	Weak transcription	Fetal Thymus	thymus
32	chr21:46296000-46300000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr21:46296000-46300000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr21:46296000-46300000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr21:46296000-46300000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr21:46296000-46300000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr21:46296000-46300000	Weak transcription	HSMM	muscle
38	chr21:46296000-46300200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr21:46296000-46300200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr21:46296000-46300200	Weak transcription	HMEC	breast
41	chr21:46296000-46300200	Weak transcription	Osteobl	bone
42	chr21:46296000-46300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr21:46296000-46300400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:46296000-46301000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr21:46296000-46301000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr21:46296000-46301000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:46296000-46301600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr21:46296000-46301600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr21:46296000-46303800	Enhancers	Primary hematopoietic stem cells	blood
50	chr21:46296000-46304600	Enhancers	Primary monocytes fromperipheralblood	blood

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