Variant report

Variant	rs378714
Chromosome Location	chr21:46529770-46529771
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46511460..46514377-chr21:46529611..46531181,2	K562	blood:
2	chr21:46528737..46532394-chr21:46532848..46536874,5	K562	blood:
3	chr21:46515956..46522233-chr21:46528087..46531013,7	K562	blood:
4	chr21:46525704..46527706-chr21:46528472..46530391,2	K562	blood:
5	chr21:46527903..46530135-chr21:46532581..46534213,2	MCF-7	breast:
6	chr21:46519046..46522635-chr21:46528087..46531462,4	K562	blood:
7	chr21:46527215..46529238-chr21:46529546..46531877,2	MCF-7	breast:
8	chr21:46502343..46504540-chr21:46529179..46531267,2	K562	blood:
9	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM207A-9	chr21:46529343-46530507	predAs_engstrom06_BG177516_1

No data

Variant related genes	Relation type
ENSG00000267857	Chromatin interaction
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000268856	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17004749	1.00[YRI][hapmap]
rs17004752	1.00[YRI][hapmap]
rs366235	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs377244	1.00[YRI][hapmap]
rs381655	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs403299	0.88[EUR][1000 genomes]
rs407550	1.00[YRI][hapmap]
rs407614	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs413148	1.00[EUR][1000 genomes]
rs420085	1.00[AMR][1000 genomes]
rs423398	1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs441788	1.00[EUR][1000 genomes]
rs447302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs449191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs453176	1.00[YRI][hapmap]

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	nsv3541	chr21:46496415-46536629	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46522600-46538600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr21:46523000-46532600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:46525000-46533600	Weak transcription	NHEK	skin
6	chr21:46525200-46534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:46525800-46533600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr21:46525800-46534000	Weak transcription	HMEC	breast
9	chr21:46526400-46531600	Weak transcription	Hela-S3	cervix
10	chr21:46526400-46533600	Weak transcription	Fetal Stomach	stomach
11	chr21:46526400-46534000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:46526400-46549400	Weak transcription	Brain Substantia Nigra	brain
13	chr21:46526800-46531600	Weak transcription	Psoas Muscle	Psoas
14	chr21:46526800-46536400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr21:46527000-46531800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr21:46528600-46530400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr21:46528600-46531000	Enhancers	HSMMtube	muscle
18	chr21:46528800-46529800	Enhancers	Fetal Brain Male	brain
19	chr21:46528800-46529800	Flanking Active TSS	GM12878-XiMat	blood
20	chr21:46528800-46530000	Enhancers	Colon Smooth Muscle	Colon
21	chr21:46528800-46530000	Enhancers	Right Ventricle	heart
22	chr21:46528800-46530200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:46528800-46530400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr21:46528800-46531200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr21:46528800-46531200	Enhancers	Fetal Muscle Trunk	muscle
26	chr21:46528800-46531200	Enhancers	Fetal Muscle Leg	muscle
27	chr21:46528800-46532600	Enhancers	Dnd41	blood
28	chr21:46528800-46536600	Genic enhancers	HSMM	muscle
29	chr21:46528800-46537200	Enhancers	Left Ventricle	heart
30	chr21:46529000-46529800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr21:46529000-46529800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr21:46529000-46530600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr21:46529000-46530800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:46529000-46531000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr21:46529000-46532000	Enhancers	Fetal Lung	lung
36	chr21:46529200-46529800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr21:46529200-46529800	Enhancers	Liver	Liver
38	chr21:46529200-46529800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr21:46529200-46529800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr21:46529200-46529800	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr21:46529200-46529800	Enhancers	K562	blood
42	chr21:46529200-46530000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr21:46529200-46530200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr21:46529200-46530200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr21:46529200-46530200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr21:46529200-46530200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr21:46529200-46530400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr21:46529200-46530400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
49	chr21:46529200-46530400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr21:46529200-46531000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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