Variant report

Variant	rs235291
Chromosome Location	chr21:46222223-46222224
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	MYC	chr21:46221498-46222462	K562	blood:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
2	GABPA	chr21:46221037-46222269	HL-60	blood:	n/a	chr21:46221780-46221791 chr21:46221782-46221791 chr21:46221780-46221794
3	MAX	chr21:46220947-46222556	Hela-S3	cervix:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
4	MAZ	chr21:46221542-46223054	K562	blood:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
5	POLR2A	chr21:46221379-46222482	PANC-1	pancreas:	n/a	n/a
6	MYC	chr21:46221051-46222484	A549	lung:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
7	MAFK	chr21:46222203-46222325	K562	blood:	n/a	n/a
8	POLR2A	chr21:46220923-46223514	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr21:46221343-46222618	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr21:46221416-46222547	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr21:46221484-46222573	HCT-116	colon:	n/a	n/a
12	GABPA	chr21:46220816-46222492	MCF-7	breast:	n/a	chr21:46221780-46221791 chr21:46221782-46221791 chr21:46221780-46221794
13	ZBTB7A	chr21:46221892-46222612	K562	blood:	n/a	chr21:46222482-46222489
14	POLR2A	chr21:46221444-46222951	GM18951	blood:	n/a	n/a
15	POLR2A	chr21:46221357-46223210	ECC-1	luminal epithelium:	n/a	n/a
16	MAX	chr21:46220971-46222659	K562	blood:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
17	POLR2A	chr21:46221487-46222353	HepG2	liver:	n/a	n/a
18	POLR2A	chr21:46220877-46225649	K562	blood:	n/a	n/a
19	SIN3A	chr21:46220887-46222973	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr21:46221404-46222699	Hela-S3	cervix:	n/a	n/a
21	ELF1	chr21:46221346-46222481	GM12878	blood:	n/a	chr21:46221512-46221524 chr21:46222336-46222348
22	POLR2A	chr21:46220980-46225308	K562	blood:	n/a	n/a
23	POLR2A	chr21:46221338-46225872	GM12878	blood:	n/a	n/a
24	GTF2F1	chr21:46221629-46223000	Hela-S3	cervix:	n/a	n/a
25	TBP	chr21:46220886-46222735	K562	blood:	n/a	n/a
26	YY1	chr21:46222109-46222614	K562	blood:	n/a	chr21:46222430-46222441
27	MAX	chr21:46221015-46223263	HepG2	liver:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
28	CEBPD	chr21:46221545-46222224	K562	blood:	n/a	n/a
29	POLR2A	chr21:46221413-46223236	ECC-1	luminal epithelium:	n/a	n/a
30	CCNT2	chr21:46221412-46222553	K562	blood:	n/a	chr21:46221544-46221553 chr21:46222087-46222096
31	USF1	chr21:46222094-46222342	H1-hESC	embryonic stem cell:	n/a	n/a
32	MYC	chr21:46221506-46222919	K562	blood:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
33	POLR2A	chr21:46220710-46226000	K562	blood:	n/a	n/a
34	MAX	chr21:46220910-46222976	MCF-7	breast:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
35	POLR2A	chr21:46220981-46225932	K562	blood:	n/a	n/a
36	POLR2A	chr21:46221318-46222536	MCF-7	breast:	n/a	n/a
37	MAX	chr21:46221032-46222559	A549	lung:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
38	MYC	chr21:46220905-46223032	K562	blood:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
39	MYC	chr21:46221557-46222406	H1-hESC	embryonic stem cell:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
40	CTCF	chr21:46222180-46222330	BJ	skin:	n/a	n/a
41	MYC	chr21:46221405-46222320	K562	blood:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
42	POLR2A	chr21:46221323-46224680	GM12892	blood:	n/a	n/a
43	HEY1	chr21:46222111-46222573	K562	blood:	n/a	n/a
44	POLR2A	chr21:46221514-46223986	GM12878	blood:	n/a	n/a
45	MAX	chr21:46221474-46222385	HepG2	liver:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
46	POLR2A	chr21:46221458-46222745	HEK293	kidney:	n/a	n/a
47	MTA3	chr21:46221473-46223265	GM12878	blood:	n/a	n/a
48	MAX	chr21:46221533-46222397	Hela-S3	cervix:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
49	MYC	chr21:46221510-46222608	Hela-S3	cervix:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
50	POLR2A	chr21:46221408-46222656	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:46218606..46224662-chr21:46357422..46363606,13	MCF-7	breast:
2	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:
3	chr21:45718752..45721154-chr21:46219831..46222611,2	K562	blood:
4	chr21:46220974..46223841-chr21:46346856..46349461,2	K562	blood:
5	chr21:46220554..46223722-chr21:46306934..46310028,3	MCF-7	breast:
6	chr21:46220974..46223825-chr21:46494380..46498218,5	MCF-7	breast:
7	chr21:46220726..46223224-chr21:46328113..46331561,4	K562	blood:
8	chr21:46219434..46222664-chr21:46346417..46349763,6	MCF-7	breast:
9	chr21:46220151..46222677-chr21:46492186..46495962,3	K562	blood:
10	chr21:46220930..46225769-chr21:46292170..46294469,5	K562	blood:
11	chr21:46221113..46222920-chr21:46311601..46314491,2	K562	blood:
12	chr21:46220413..46223818-chr21:46291771..46295209,8	K562	blood:
13	chr21:46220308..46222402-chr21:46328701..46333083,4	MCF-7	breast:
14	chr21:45927714..45931885-chr21:46220128..46224260,6	MCF-7	breast:
15	chr21:46220260..46222802-chr21:46358731..46365262,8	MCF-7	breast:
16	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
17	chr21:46220263..46223201-chr21:46349640..46352735,4	K562	blood:
18	chr21:46220228..46226309-chr21:46349546..46355767,8	K562	blood:

Variant related genes	Relation type
ENSG00000236519	TF binding region
UBE2G2	TF binding region
ENSG00000160255	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000235890	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000235374	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs170959	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173095	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs173097	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180313	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs184634	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186848	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235274	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235279	1.00[CEU][hapmap]
rs235292	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235293	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235335	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235336	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235350	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235355	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235359	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235364	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235365	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235367	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235368	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570974	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34800103	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611462	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	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
4	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46219800-46222400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr21:46220000-46222400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:46220200-46222600	Active TSS	Fetal Kidney	kidney
4	chr21:46220200-46222600	Active TSS	A549	lung
5	chr21:46220400-46222600	Active TSS	H1 Cell Line	embryonic stem cell
6	chr21:46220400-46222800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46220400-46223000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr21:46220600-46222400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:46220600-46222400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:46220600-46222400	Active TSS	Fetal Intestine Large	intestine
11	chr21:46220600-46222600	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr21:46220600-46222600	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr21:46220600-46222800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr21:46220600-46222800	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr21:46220600-46222800	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr21:46220800-46222400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:46220800-46222400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr21:46220800-46222400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr21:46220800-46222400	Active TSS	Aorta	Aorta
20	chr21:46220800-46222400	Bivalent/Poised TSS	HepG2	liver
21	chr21:46220800-46222400	Active TSS	HSMMtube	muscle
22	chr21:46220800-46222600	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr21:46220800-46222600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:46220800-46222600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr21:46220800-46222600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr21:46220800-46222600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr21:46220800-46222600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr21:46220800-46222600	Active TSS	NHLF	lung
29	chr21:46220800-46222800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr21:46220800-46222800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr21:46220800-46222800	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr21:46220800-46222800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr21:46220800-46223000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr21:46220800-46223000	Active TSS	HSMM	muscle
35	chr21:46221000-46222400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:46221000-46222400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr21:46221000-46222400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:46221000-46222400	Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr21:46221000-46222400	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr21:46221000-46222400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr21:46221000-46222400	Active TSS	Brain Germinal Matrix	brain
42	chr21:46221000-46222400	Active TSS	Brain Substantia Nigra	brain
43	chr21:46221000-46222400	Active TSS	Fetal Heart	heart
44	chr21:46221000-46222400	Active TSS	Fetal Intestine Small	intestine
45	chr21:46221000-46222400	Active TSS	Fetal Stomach	stomach
46	chr21:46221000-46222400	Active TSS	Lung	lung
47	chr21:46221000-46222400	Active TSS	Right Ventricle	heart
48	chr21:46221000-46222400	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr21:46221000-46222400	Active TSS	Small Intestine	intestine
50	chr21:46221000-46222400	Active TSS	Thymus	Thymus

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