Variant report

Variant	rs73442739
Chromosome Location	chr21:40112891-40112892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40110884..40114912-chr21:40179006..40181984,4	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
2	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
3	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
4	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
5	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
6	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
7	lnc-ERG-2	chr21:40112808-40112992	XLOC_014073
8	lnc-ERG-2	chr21:40112808-40112992	NONHSAT082118
9	lnc-ERG-2	chr21:40112808-40112992	NONHSAT082122
10	lnc-ERG-2	chr21:40112808-40112992	NR_027065

No data

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs2187306	1.00[AMR][1000 genomes]
rs59592764	1.00[AMR][1000 genomes]
rs59907098	1.00[AMR][1000 genomes]
rs73432978	1.00[AMR][1000 genomes]
rs73433002	1.00[AMR][1000 genomes]
rs73434824	1.00[AMR][1000 genomes]
rs73440728	1.00[AMR][1000 genomes]
rs73440730	1.00[AMR][1000 genomes]
rs73440743	1.00[AMR][1000 genomes]
rs73440746	1.00[AMR][1000 genomes]
rs73440751	1.00[AMR][1000 genomes]
rs73440753	1.00[AMR][1000 genomes]
rs73440758	1.00[AMR][1000 genomes]
rs73440772	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73446336	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060405	chr21:40095523-40159813	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1057356	chr21:40103881-40147363	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv913739	chr21:40103951-40152372	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv913740	chr21:40103951-40157124	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3410139	chr21:40111732-40113680	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40102600-40124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:40107000-40113000	Weak transcription	Primary T cells from cord blood	blood
3	chr21:40107400-40113000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:40108000-40113200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr21:40108400-40113000	Weak transcription	Dnd41	blood
6	chr21:40111600-40113600	Enhancers	Small Intestine	intestine
7	chr21:40111600-40116200	Enhancers	Fetal Intestine Large	intestine
8	chr21:40111600-40116400	Enhancers	Fetal Intestine Small	intestine
9	chr21:40111800-40114200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr21:40111800-40114200	Enhancers	Duodenum Mucosa	Duodenum
11	chr21:40112000-40114000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr21:40112000-40114400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:40112000-40115000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr21:40112200-40113000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr21:40112200-40113200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr21:40112200-40113200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr21:40112200-40113400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr21:40112200-40113600	Weak transcription	HepG2	liver
19	chr21:40112200-40114000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr21:40112200-40115000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:40112400-40113400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr21:40112400-40114400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr21:40112600-40113000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr21:40112600-40113000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:40112800-40113800	Enhancers	Spleen	Spleen
26	chr21:40112800-40114200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr21:40112800-40114200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr21:40112800-40114200	Enhancers	Colonic Mucosa	Colon
29	chr21:40112800-40114400	Enhancers	Rectal Mucosa Donor 31	rectum

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