Variant report

Variant	rs84188
Chromosome Location	chr21:46221847-46221848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:386)
CpG islands
(count:61)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:386 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46221452-46222061	K562	blood:	n/a	n/a
2	POLR2A	chr21:46221272-46222146	H1-neurons	neurons:	n/a	n/a
3	WRNIP1	chr21:46221755-46221910	GM12878	blood:	n/a	n/a
4	MYC	chr21:46221498-46222462	K562	blood:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
5	SIX5	chr21:46221533-46221889	GM12878	blood:	n/a	n/a
6	ARID3A	chr21:46221829-46222009	HepG2	liver:	n/a	n/a
7	GABPA	chr21:46221037-46222269	HL-60	blood:	n/a	chr21:46221780-46221791 chr21:46221782-46221791 chr21:46221780-46221794
8	MAX	chr21:46220947-46222556	Hela-S3	cervix:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
9	EGR1	chr21:46221532-46221991	GM12878	blood:	n/a	chr21:46221781-46221790 chr21:46221782-46221791
10	SREBP2	chr21:46220984-46222111	GM12878	blood:	n/a	n/a
11	ETS1	chr21:46221518-46222044	A549	lung:	n/a	n/a
12	TAF1	chr21:46221573-46221972	GM12891	blood:	n/a	n/a
13	MAZ	chr21:46221542-46223054	K562	blood:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
14	POLR2A	chr21:46221379-46222482	PANC-1	pancreas:	n/a	n/a
15	SIN3AK20	chr21:46221620-46221997	A549	lung:	n/a	n/a
16	ZMIZ1	chr21:46221261-46222005	K562	blood:	n/a	n/a
17	MYC	chr21:46221051-46222484	A549	lung:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
18	POLR2A	chr21:46221505-46222023	HCT-116	colon:	n/a	n/a
19	STAT1	chr21:46221564-46221959	GM12878	blood:	n/a	chr21:46221938-46221945
20	POLR2A	chr21:46220923-46223514	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr21:46221343-46222618	H1-hESC	embryonic stem cell:	n/a	n/a
22	HEY1	chr21:46221478-46222047	HepG2	liver:	n/a	chr21:46221518-46221533
23	TAF1	chr21:46221558-46221876	GM12891	blood:	n/a	n/a
24	GABPA	chr21:46221407-46222146	A549	lung:	n/a	chr21:46221780-46221791 chr21:46221782-46221791 chr21:46221780-46221794
25	REST	chr21:46221610-46222068	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr21:46221416-46222547	Hela-S3	cervix:	n/a	n/a
27	CBX3	chr21:46221548-46222034	K562	blood:	n/a	n/a
28	POLR2A	chr21:46221484-46222573	HCT-116	colon:	n/a	n/a
29	GABPA	chr21:46220816-46222492	MCF-7	breast:	n/a	chr21:46221780-46221791 chr21:46221782-46221791 chr21:46221780-46221794
30	JUND	chr21:46220780-46221986	K562	blood:	n/a	n/a
31	FOXP2	chr21:46221368-46222070	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr21:46221558-46222002	GM12891	blood:	n/a	n/a
33	POLR2A	chr21:46221444-46222951	GM18951	blood:	n/a	n/a
34	POLR2A	chr21:46221357-46223210	ECC-1	luminal epithelium:	n/a	n/a
35	MAX	chr21:46220971-46222659	K562	blood:	n/a	chr21:46222000-46222009 chr21:46222236-46222243
36	CBX3	chr21:46221522-46222091	K562	blood:	n/a	n/a
37	POLR2A	chr21:46221487-46222353	HepG2	liver:	n/a	n/a
38	POLR2A	chr21:46220877-46225649	K562	blood:	n/a	n/a
39	ETS1	chr21:46221404-46221899	K562	blood:	n/a	n/a
40	TAF1	chr21:46221625-46221948	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr21:46221284-46222094	HUVEC	blood vessel:	n/a	n/a
42	HEY1	chr21:46221519-46221999	HepG2	liver:	n/a	n/a
43	RUNX3	chr21:46221479-46222079	GM12878	blood:	n/a	n/a
44	SIN3A	chr21:46220887-46222973	H1-hESC	embryonic stem cell:	n/a	n/a
45	NRF1	chr21:46221685-46221907	K562	blood:	n/a	chr21:46221780-46221791 chr21:46221782-46221791 chr21:46221780-46221791 chr21:46221780-46221794
46	POLR2A	chr21:46221404-46222699	Hela-S3	cervix:	n/a	n/a
47	HEY1	chr21:46221439-46222096	K562	blood:	n/a	chr21:46221518-46221533
48	ELF1	chr21:46221346-46222481	GM12878	blood:	n/a	chr21:46221512-46221524 chr21:46222336-46222348
49	FOXM1	chr21:46221623-46222032	GM12878	blood:	n/a	n/a
50	POLR2A	chr21:46220980-46225308	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46221839-46221889	HRE	kidney:	n/a
2	chr21:46221839-46221889	ProgFib	skin:	n/a
3	chr21:46221839-46221889	SK-N-MC	brain:	n/a
4	chr21:46221839-46221889	HIPEpiC	eye:	n/a
5	chr21:46221839-46221889	NHDF-neo	bronchial:	n/a
6	chr21:46221839-46221889	AG10803	skin:	n/a
7	chr21:46221839-46221889	HPAEpiC	pulmonary alveolar:	n/a
8	chr21:46221839-46221889	HRPEpiC	eye:	n/a
9	chr21:46221839-46221889	GM12878	blood:	n/a
10	chr21:46221839-46221889	MCF-7	breast:	n/a
11	chr21:46221839-46221889	NH-A	brain:	n/a
12	chr21:46221839-46221889	PrEC	prostate:	n/a
13	chr21:46221839-46221889	GM19239	blood:	n/a
14	chr21:46221839-46221889	HNPCEpiC	eye:	n/a
15	chr21:46221839-46221889	HCM	heart:	n/a
16	chr21:46221839-46221889	AG04449	skin:	fetal
17	chr21:46221839-46221889	HEK293	kidney:	embryo
18	chr21:46221839-46221889	K562	blood:	n/a
19	chr21:46221839-46221889	HMEC	breast:	n/a
20	chr21:46221839-46221889	HCF	heart:	n/a
21	chr21:46221839-46221889	HCPEpiC	choroid plexus:	n/a
22	chr21:46221839-46221889	T-47D	breast:	n/a
23	chr21:46221839-46221889	Hepatocyte	liver:	n/a
24	chr21:46221839-46221889	ECC-1	luminal epithelium:	n/a
25	chr21:46221839-46221889	RPTEC	kidney:	n/a
26	chr21:46221839-46221889	HUVEC	blood vessel:	n/a
27	chr21:46221839-46221889	PFSK-1	brain:	n/a
28	chr21:46221839-46221889	Hela-S3	cervix:	n/a
29	chr21:46221839-46221889	LNCaP	prostate:	n/a
30	chr21:46221839-46221889	H1-hESC	embryonic stem cell:	embryo
31	chr21:46221839-46221889	AG09309	skin:	n/a
32	chr21:46221839-46221889	PANC-1	pancreas:	n/a
33	chr21:46221839-46221889	HAEpiC	amniotic membrane:	n/a
34	chr21:46221839-46221889	GM12891	blood:	n/a
35	chr21:46221839-46221889	Jurkat	blood:	n/a
36	chr21:46221839-46221889	NB4	blood:	n/a
37	chr21:46221839-46221889	HL-60	blood:	n/a
38	chr21:46221839-46221889	AG04450	lung:	fetal
39	chr21:46221839-46221889	HEEpiC	esophagus:	n/a
40	chr21:46221839-46221889	SKMC	muscle:	n/a
41	chr21:46221839-46221889	IMR90	lung:	fetal
42	chr21:46221839-46221889	A549	lung:	n/a
43	chr21:46221839-46221889	BJ	skin:	n/a
44	chr21:46221839-46221889	U87	brain:	n/a
45	chr21:46221839-46221889	SK-N-SH_RA	brain:	n/a
46	chr21:46221839-46221889	NT2-D1	testis:	n/a
47	chr21:46221839-46221889	CMK	blood:	n/a
48	chr21:46221839-46221889	AoSMC	blood vessel:	n/a
49	chr21:46221839-46221889	ovcar-3	ovarian:	n/a
50	chr21:46221839-46221889	SAEC	small airway:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46218606..46224662-chr21:46357422..46363606,13	MCF-7	breast:
2	chr21:46220374..46222087-chr21:46311415..46314337,2	MCF-7	breast:
3	chr21:45928985..45931297-chr21:46219796..46221889,2	MCF-7	breast:
4	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:
5	chr21:45718752..45721154-chr21:46219831..46222611,2	K562	blood:
6	chr21:46220974..46223841-chr21:46346856..46349461,2	K562	blood:
7	chr21:46220554..46223722-chr21:46306934..46310028,3	MCF-7	breast:
8	chr21:46220974..46223825-chr21:46494380..46498218,5	MCF-7	breast:
9	chr21:46220726..46223224-chr21:46328113..46331561,4	K562	blood:
10	chr21:46219434..46222664-chr21:46346417..46349763,6	MCF-7	breast:
11	chr21:46220151..46222677-chr21:46492186..46495962,3	K562	blood:
12	chr12:58145700..58146231-chr21:46221321..46221873,2	Hela-S3	cervix:
13	chr12:27676440..27677164-chr21:46221167..46221923,2	Hela-S3	cervix:
14	chr21:46220930..46225769-chr21:46292170..46294469,5	K562	blood:
15	chr21:46218496..46222154-chr21:46279503..46283710,3	MCF-7	breast:
16	chr21:46221113..46222920-chr21:46311601..46314491,2	K562	blood:
17	chr1:78148402..78149137-chr21:46221447..46222054,2	Hela-S3	cervix:
18	chr21:46220413..46223818-chr21:46291771..46295209,8	K562	blood:
19	chr21:46220308..46222402-chr21:46328701..46333083,4	MCF-7	breast:
20	chr21:45927714..45931885-chr21:46220128..46224260,6	MCF-7	breast:
21	chr21:46220260..46222802-chr21:46358731..46365262,8	MCF-7	breast:
22	chr20:45984634..45987262-chr21:46219843..46222143,2	MCF-7	breast:
23	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
24	chr21:46220263..46223201-chr21:46349640..46352735,4	K562	blood:
25	chr21:46220228..46226309-chr21:46349546..46355767,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236519	TF binding region
UBE2G2	TF binding region
ENSG00000236519	CpG island
UBE2G2	CpG island
ENSG00000135446	Chromatin interaction
ENSG00000110841	Chromatin interaction
ENSG00000036549	Chromatin interaction
ENSG00000183255	Chromatin interaction
ENSG00000268856	Chromatin interaction
ENSG00000235890	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000160256	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000273027	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1060564	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11569	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs180317	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs183518	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs184633	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2329902	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs235267	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235268	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs235269	0.94[ASN][1000 genomes]
rs235270	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235271	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235272	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235275	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs235337	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs235352	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs235353	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs235358	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs235360	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs235361	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs235369	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2838695	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3788134	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs434608	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs657730	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs658657	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs690626	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7280306	0.87[AMR][1000 genomes];0.82[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs84188	UBE2G2	Cis_1M	lymphoblastoid	RTeQTL

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	chr21:46220400-46222000	Active TSS	Fetal Muscle Trunk	muscle
6	chr21:46220400-46222600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr21:46220400-46222800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:46220400-46223000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr21:46220600-46222200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr21:46220600-46222400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:46220600-46222400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:46220600-46222400	Active TSS	Fetal Intestine Large	intestine
13	chr21:46220600-46222600	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr21:46220600-46222600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr21:46220600-46222800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr21:46220600-46222800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr21:46220600-46222800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr21:46220800-46222200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:46220800-46222200	Active TSS	Pancreas	Pancrea
20	chr21:46220800-46222400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:46220800-46222400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr21:46220800-46222400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr21:46220800-46222400	Active TSS	Aorta	Aorta
24	chr21:46220800-46222400	Bivalent/Poised TSS	HepG2	liver
25	chr21:46220800-46222400	Active TSS	HSMMtube	muscle
26	chr21:46220800-46222600	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr21:46220800-46222600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:46220800-46222600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr21:46220800-46222600	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr21:46220800-46222600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr21:46220800-46222600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr21:46220800-46222600	Active TSS	NHLF	lung
33	chr21:46220800-46222800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr21:46220800-46222800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr21:46220800-46222800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr21:46220800-46222800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
37	chr21:46220800-46223000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr21:46220800-46223000	Active TSS	HSMM	muscle
39	chr21:46221000-46222000	Active TSS	Fetal Brain Male	brain
40	chr21:46221000-46222200	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr21:46221000-46222200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr21:46221000-46222200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr21:46221000-46222200	Active TSS	Fetal Muscle Leg	muscle
44	chr21:46221000-46222200	Active TSS	Fetal Thymus	thymus
45	chr21:46221000-46222200	Active TSS	Left Ventricle	heart
46	chr21:46221000-46222200	Active TSS	Psoas Muscle	Psoas
47	chr21:46221000-46222200	Active TSS	Stomach Mucosa	stomach
48	chr21:46221000-46222400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr21:46221000-46222400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:46221000-46222400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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