Variant report

Variant	rs558318905
Chromosome Location	chr21:40114159-40114160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr21:40113727-40114925	PBDE	blood:	n/a	n/a
2	TEAD4	chr21:40113804-40114207	K562	blood:	n/a	n/a
3	TAL1	chr21:40113796-40114199	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40113948..40115514-chr21:40177430..40179064,2	K562	blood:
2	chr21:40110884..40114912-chr21:40179006..40181984,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERG-2	chr21:40113245-40114441	XLOC_014073

No data

Variant related genes	Relation type
LINC00114	TF binding region
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1066051	chr21:40114130-40147363	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1057627	chr21:40114130-40151977	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1060535	chr21:40114130-40155067	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1063936	chr21:40114130-40159150	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 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	chr21:40111600-40116200	Enhancers	Fetal Intestine Large	intestine
3	chr21:40111600-40116400	Enhancers	Fetal Intestine Small	intestine
4	chr21:40111800-40114200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr21:40111800-40114200	Enhancers	Duodenum Mucosa	Duodenum
6	chr21:40112000-40114400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:40112000-40115000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr21:40112200-40115000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr21:40112400-40114400	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr21:40112800-40114200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr21:40112800-40114200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr21:40112800-40114200	Enhancers	Colonic Mucosa	Colon
13	chr21:40112800-40114400	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr21:40113000-40114200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr21:40113000-40114200	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr21:40113000-40114400	Enhancers	Primary T cells from cord blood	blood
17	chr21:40113400-40114200	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr21:40113600-40114200	Enhancers	HepG2	liver
19	chr21:40113600-40114400	Enhancers	K562	blood
20	chr21:40113600-40115800	Weak transcription	Small Intestine	intestine
21	chr21:40113800-40116000	Enhancers	Placenta Amnion	Placenta Amnion
22	chr21:40113800-40119200	Weak transcription	Spleen	Spleen
23	chr21:40114000-40115600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr21:40114000-40115600	Weak transcription	Lung	lung
25	chr21:40114000-40115600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr21:40114000-40118800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:40114000-40119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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