Variant report

Variant	rs542176108
Chromosome Location	chr21:46492356-46492357
allele	G/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:14)
LncRNA
region (count:3)
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	POLR2A	chr21:46492353-46497285	IMR90	lung:	n/a	n/a
2	POLR2A	chr21:46492179-46492544	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr21:46492119-46492463	Hela-S3	cervix:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
2	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
3	chr21:46363747..46379047-chr21:46484156..46498795,67	K562	blood:
4	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
5	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
6	chr21:46292697..46294233-chr21:46492293..46494359,2	K562	blood:
7	chr21:46355061..46362857-chr21:46490375..46496482,13	K562	blood:
8	chr21:46220151..46222677-chr21:46492186..46495962,3	K562	blood:
9	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
10	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
11	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
12	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
13	chr21:46492324..46495855-chr21:46960806..46963103,3	K562	blood:
14	chr21:46411461..46416034-chr21:46491875..46495276,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf67-11	chr21:46490871-46493126	NONHSAT082913
2	lnc-C21orf67-11	chr21:46492326-46492595	NONHSAT082914
3	lnc-C21orf67-11	chr21:46490870-46493126	NR_027292

No data

Variant related genes	Relation type
SSR4P1	TF binding region
ADARB1	TF binding region
ENSG00000160256	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000236519	Chromatin interaction
ENSG00000234880	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000173638	Chromatin interaction
ENSG00000261706	Chromatin interaction
ENSG00000184900	Chromatin interaction
ENSG00000184787	Chromatin interaction
ENSG00000272825	Chromatin interaction
ENSG00000224930	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000183255	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
3	esv3355416	chr21:46492024-46497122	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46475200-46493400	Weak transcription	Right Atrium	heart
2	chr21:46475400-46493200	Weak transcription	Spleen	Spleen
3	chr21:46484600-46493400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:46484800-46493200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr21:46485400-46492800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr21:46485600-46493600	Weak transcription	Aorta	Aorta
7	chr21:46487600-46493200	Enhancers	Fetal Muscle Trunk	muscle
8	chr21:46487800-46493200	Weak transcription	Fetal Heart	heart
9	chr21:46487800-46493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:46488200-46493400	Weak transcription	Primary T cells from cord blood	blood
11	chr21:46489200-46492600	Enhancers	HSMM	muscle
12	chr21:46489600-46493400	Enhancers	HSMMtube	muscle
13	chr21:46489800-46492400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr21:46489800-46493200	Weak transcription	Hela-S3	cervix
15	chr21:46489800-46493400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:46490200-46492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:46490200-46492800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr21:46490200-46493200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr21:46490200-46493200	Weak transcription	Esophagus	oesophagus
20	chr21:46490200-46493400	Weak transcription	NH-A	brain
21	chr21:46490400-46492400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:46490400-46492600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr21:46490400-46492800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:46490400-46493200	Weak transcription	HMEC	breast
25	chr21:46490400-46493200	Weak transcription	NHEK	skin
26	chr21:46490400-46493400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:46490600-46492600	Weak transcription	Placenta	Placenta
28	chr21:46490600-46493200	Weak transcription	Fetal Intestine Small	intestine
29	chr21:46491000-46492600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:46491000-46493200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr21:46491000-46493400	Weak transcription	Brain Substantia Nigra	brain
32	chr21:46491200-46492800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr21:46491200-46493200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr21:46491600-46492400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr21:46491600-46492800	Weak transcription	K562	blood
36	chr21:46491600-46493200	Genic enhancers	Fetal Muscle Leg	muscle
37	chr21:46491600-46493600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:46492000-46492400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr21:46492200-46492400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr21:46492200-46492800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr21:46492200-46493200	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr21:46492200-46493400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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