Variant report

Variant	rs73380675
Chromosome Location	chr21:47268027-47268028
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr21:47267940-47268090	HMF	breast:	n/a	n/a
2	CTCF	chr21:47267858-47268113	MCF-7	breast:	n/a	n/a
3	CTCF	chr21:47267894-47268032	LNCaP	prostate:	n/a	n/a
4	CTCF	chr21:47267900-47268050	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr21:47267823-47268132	T-47D	breast:	n/a	n/a
6	CTCF	chr21:47267900-47268050	RPTEC	kidney:	n/a	n/a
7	RAD21	chr21:47267884-47268047	SK-N-SH_RA	brain:	n/a	n/a
8	CTCF	chr21:47267940-47268090	HA-sp	spinal cord:	n/a	n/a
9	CTCF	chr21:47267880-47268030	K562	blood:	n/a	n/a
10	RAD21	chr21:47267822-47268165	HepG2	liver:	n/a	n/a
11	RAD21	chr21:47267817-47268090	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr21:47267920-47268070	HAc	cerebellar:	n/a	n/a
13	CTCF	chr21:47267880-47268030	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr21:47267860-47268083	HepG2	liver:	n/a	n/a
15	RAD21	chr21:47267708-47268259	MCF-7	breast:	n/a	n/a
16	RAD21	chr21:47267839-47268304	MCF-7	breast:	n/a	n/a
17	CTCF	chr21:47267980-47268130	BJ	skin:	n/a	n/a
18	CTCF	chr21:47267880-47268030	HepG2	liver:	n/a	n/a
19	CTCF	chr21:47267920-47268070	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr21:47267940-47268090	WERI-Rb-1	eye:	n/a	n/a
21	CTCF	chr21:47267960-47268110	HRPEpiC	eye:	n/a	n/a
22	CTCF	chr21:47267920-47268070	MCF-7	breast:	n/a	n/a
23	CTCF	chr21:47267959-47268031	A549	lung:	n/a	n/a
24	CTCF	chr21:47267920-47268070	BE2_C	brain:	n/a	n/a
25	CTCF	chr21:47267915-47268048	Hela-S3	cervix:	n/a	n/a
26	TCF7L2	chr21:47267750-47268144	MCF-7	breast:	n/a	chr21:47267929-47267943
27	CTCF	chr21:47267880-47268030	HVMF	connective:	n/a	n/a
28	CTCF	chr21:47267675-47268241	MCF-7	breast:	n/a	n/a
29	CTCF	chr21:47267940-47268090	GM06990	blood:	n/a	n/a
30	CTCF	chr21:47267920-47268070	BJ	skin:	n/a	n/a
31	CTCF	chr21:47267900-47268050	MCF-7	breast:	n/a	n/a
32	RAD21	chr21:47267897-47268150	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr21:47267880-47268030	HBMEC	blood vessel:	n/a	n/a
34	RAD21	chr21:47267880-47268121	HepG2	liver:	n/a	n/a
35	CTCF	chr21:47267933-47268066	LNCaP	prostate:	n/a	n/a
36	CTCF	chr21:47267880-47268030	HPAF	blood vessel:	n/a	n/a
37	TCF7L2	chr21:47267792-47268131	HCT-116	colon:	n/a	chr21:47267929-47267943
38	TCF7L2	chr21:47267738-47268123	PANC-1	pancreas:	n/a	chr21:47267929-47267943
39	CTCF	chr21:47267874-47268088	MCF-7	breast:	n/a	n/a
40	CTCF	chr21:47267949-47268046	K562	blood:	n/a	n/a
41	CTCF	chr21:47267801-47268265	MCF-7	breast:	n/a	n/a
42	CTCF	chr21:47267940-47268090	Caco-2	colon:	n/a	n/a
43	CTCF	chr21:47268000-47268150	HCPEpiC	choroid plexus:	n/a	n/a

No data

Variant related genes	Relation type
PCBP3	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11908989	1.00[EUR][1000 genomes]
rs11910200	1.00[EUR][1000 genomes]
rs11910741	1.00[EUR][1000 genomes]
rs11910904	1.00[EUR][1000 genomes]
rs11911016	1.00[EUR][1000 genomes]
rs16978611	1.00[EUR][1000 genomes]
rs2877093	1.00[EUR][1000 genomes]
rs56789580	1.00[EUR][1000 genomes]
rs58160661	1.00[EUR][1000 genomes]
rs58393620	1.00[EUR][1000 genomes]
rs58476668	1.00[EUR][1000 genomes]
rs58614340	1.00[EUR][1000 genomes]
rs59852288	1.00[EUR][1000 genomes]
rs60300060	1.00[EUR][1000 genomes]
rs60541263	1.00[EUR][1000 genomes]
rs60918845	1.00[EUR][1000 genomes]
rs61151390	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61265907	1.00[EUR][1000 genomes]
rs73376613	1.00[EUR][1000 genomes]
rs73376621	1.00[EUR][1000 genomes]
rs73376631	1.00[EUR][1000 genomes]
rs73376653	1.00[EUR][1000 genomes]
rs73376677	1.00[EUR][1000 genomes]
rs73376685	1.00[EUR][1000 genomes]
rs73376697	1.00[EUR][1000 genomes]
rs73378536	1.00[EUR][1000 genomes]
rs73378554	1.00[EUR][1000 genomes]
rs73378560	1.00[EUR][1000 genomes]
rs73378572	1.00[EUR][1000 genomes]
rs73378580	1.00[EUR][1000 genomes]
rs73378582	1.00[EUR][1000 genomes]
rs73378589	1.00[EUR][1000 genomes]
rs73378591	1.00[EUR][1000 genomes]
rs73378594	1.00[EUR][1000 genomes]
rs73378597	1.00[EUR][1000 genomes]
rs73378599	1.00[EUR][1000 genomes]
rs73380609	1.00[EUR][1000 genomes]
rs73380618	1.00[EUR][1000 genomes]
rs73380620	1.00[EUR][1000 genomes]
rs73380624	1.00[EUR][1000 genomes]
rs73380625	1.00[EUR][1000 genomes]
rs73380629	1.00[EUR][1000 genomes]
rs73380634	1.00[EUR][1000 genomes]
rs73380636	1.00[EUR][1000 genomes]
rs73380639	1.00[EUR][1000 genomes]
rs73380641	1.00[EUR][1000 genomes]
rs73380652	1.00[EUR][1000 genomes]
rs73380656	1.00[EUR][1000 genomes]
rs73380658	1.00[EUR][1000 genomes]
rs73380665	1.00[EUR][1000 genomes]
rs73380668	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73380670	1.00[EUR][1000 genomes]
rs73380672	1.00[EUR][1000 genomes]
rs73380673	1.00[EUR][1000 genomes]
rs73380682	1.00[EUR][1000 genomes]
rs73380688	1.00[EUR][1000 genomes]
rs73382504	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73382531	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73382578	1.00[EUR][1000 genomes]
rs8127953	1.00[EUR][1000 genomes]
rs8129037	1.00[EUR][1000 genomes]
rs8133670	1.00[EUR][1000 genomes]
rs8133782	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
10	nsv914078	chr21:47218744-47311686	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
11	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
12	esv2756755	chr21:47243032-47319768	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
13	esv2758821	chr21:47243032-47319768	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
14	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
15	nsv914080	chr21:47265786-47311686	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
16	nsv914081	chr21:47265786-47320805	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
17	nsv914082	chr21:47265786-47338007	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
18	nsv914083	chr21:47265786-47453954	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47261200-47269600	Weak transcription	Thymus	Thymus
2	chr21:47261800-47275200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr21:47263800-47274400	Weak transcription	Spleen	Spleen
4	chr21:47264000-47275000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr21:47265200-47268600	Enhancers	Brain Hippocampus Middle	brain
6	chr21:47265400-47268200	Enhancers	Fetal Muscle Leg	muscle
7	chr21:47265400-47268400	Enhancers	Brain Cingulate Gyrus	brain
8	chr21:47265600-47268600	Enhancers	Brain Substantia Nigra	brain
9	chr21:47265600-47269600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:47265800-47269400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:47265800-47269600	Weak transcription	Pancreas	Pancrea
12	chr21:47265800-47274400	Weak transcription	HSMMtube	muscle
13	chr21:47265800-47282000	Weak transcription	Primary T cells from cord blood	blood
14	chr21:47266200-47268200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr21:47266400-47268200	Enhancers	Brain Anterior Caudate	brain
16	chr21:47266400-47268400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr21:47266600-47268200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr21:47266800-47269200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:47266800-47269800	Weak transcription	Fetal Thymus	thymus
20	chr21:47266800-47300600	Weak transcription	Right Atrium	heart
21	chr21:47267600-47268200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:47267800-47268400	Flanking Active TSS	NH-A	brain
23	chr21:47267800-47269000	Enhancers	GM12878-XiMat	blood
24	chr21:47268000-47268400	Enhancers	Fetal Kidney	kidney
25	chr21:47268000-47272400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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