Variant report

Variant	rs741793
Chromosome Location	chr21:40508603-40508604
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40277363..40279174-chr21:40508328..40510405,2	K562	blood:
2	chr21:40040912..40041817-chr21:40507070..40508725,4	MCF-7	breast:
3	chr21:40177357..40179750-chr21:40506516..40509487,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2142113	0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2142114	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2222995	0.89[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2836916	0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2836919	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6517511	0.83[AMR][1000 genomes];0.88[ASN][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	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv3338180	chr21:40504382-40508680	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523900	chr21:40506026-40509189	Bivalent/Poised TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40503800-40508800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr21:40504000-40508800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:40504800-40509400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:40505000-40510000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr21:40506800-40508800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:40507200-40509800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:40507200-40510200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:40507400-40509800	Enhancers	Spleen	Spleen
9	chr21:40507400-40510600	Enhancers	HepG2	liver
10	chr21:40507800-40509000	Weak transcription	Fetal Kidney	kidney
11	chr21:40508200-40509200	Weak transcription	Dnd41	blood
12	chr21:40508400-40509400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr21:40508400-40509600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr21:40508400-40509600	Enhancers	NHEK	skin
15	chr21:40508400-40509800	Enhancers	HMEC	breast
16	chr21:40508400-40509800	Enhancers	NHDF-Ad	bronchial
17	chr21:40508600-40508800	Enhancers	Fetal Muscle Trunk	muscle
18	chr21:40508600-40509600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:40508600-40509600	Enhancers	Esophagus	oesophagus
20	chr21:40508600-40509600	Enhancers	Placenta	Placenta
21	chr21:40508600-40509600	Enhancers	Osteobl	bone
22	chr21:40508600-40509800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:40508600-40509800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:40508600-40509800	Enhancers	Fetal Muscle Leg	muscle
25	chr21:40508600-40509800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr21:40508600-40510000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:40508600-40510000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr21:40508600-40510000	Enhancers	A549	lung
29	chr21:40508600-40510000	Enhancers	NHLF	lung
30	chr21:40508600-40510400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:40508600-40510600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr21:40508600-40510600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr21:40508600-40510600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr21:40508600-40510600	Enhancers	Fetal Intestine Small	intestine
35	chr21:40508600-40510600	Enhancers	Hela-S3	cervix
36	chr21:40508600-40510600	Enhancers	NH-A	brain

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