Variant report

Variant	rs2836916
Chromosome Location	chr21:40509653-40509654
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:39727664..39728172-chr21:40509611..40510307,2	MCF-7	breast:
2	chr21:40277363..40279174-chr21:40508328..40510405,2	K562	blood:
3	chr21:40509643..40512150-chr21:40518013..40520045,2	MCF-7	breast:
4	chr21:39877335..39878226-chr21:40509461..40510323,2	MCF-7	breast:
5	chr21:40083823..40084458-chr21:40509555..40510373,2	MCF-7	breast:
6	chr21:40508919..40510816-chr21:40719509..40722111,2	K562	blood:
7	chr21:40105520..40106468-chr21:40509285..40510275,4	K562	blood:

Variant related genes	Relation type
ENSG00000205581	Chromatin interaction

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

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

rs_ID	r²[population]
rs2142113	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2142114	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs2222995	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836919	0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4817991	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs741793	0.90[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]

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	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40505000-40510000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr21:40507200-40509800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr21:40507200-40510200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40507400-40509800	Enhancers	Spleen	Spleen
5	chr21:40507400-40510600	Enhancers	HepG2	liver
6	chr21:40508400-40509800	Enhancers	HMEC	breast
7	chr21:40508400-40509800	Enhancers	NHDF-Ad	bronchial
8	chr21:40508600-40509800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr21:40508600-40509800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr21:40508600-40509800	Enhancers	Fetal Muscle Leg	muscle
11	chr21:40508600-40509800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr21:40508600-40510000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:40508600-40510000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr21:40508600-40510000	Enhancers	A549	lung
15	chr21:40508600-40510000	Enhancers	NHLF	lung
16	chr21:40508600-40510400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:40508600-40510600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:40508600-40510600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr21:40508600-40510600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr21:40508600-40510600	Enhancers	Fetal Intestine Small	intestine
21	chr21:40508600-40510600	Enhancers	Hela-S3	cervix
22	chr21:40508600-40510600	Enhancers	NH-A	brain
23	chr21:40508800-40509800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr21:40508800-40510000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:40509000-40509800	Enhancers	K562	blood
26	chr21:40509000-40510600	Enhancers	Fetal Kidney	kidney
27	chr21:40509200-40509800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr21:40509200-40509800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr21:40509200-40509800	Enhancers	Dnd41	blood
30	chr21:40509200-40510000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr21:40509200-40510000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr21:40509200-40510200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr21:40509200-40510200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:40509200-40510200	Enhancers	Fetal Lung	lung
35	chr21:40509200-40510400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr21:40509200-40510600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr21:40509200-40510600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr21:40509200-40510600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr21:40509200-40510600	Enhancers	Fetal Intestine Large	intestine
40	chr21:40509200-40510600	Enhancers	Fetal Stomach	stomach
41	chr21:40509400-40509800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr21:40509400-40509800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:40509400-40509800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr21:40509400-40509800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr21:40509400-40510000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:40509400-40510400	Enhancers	H9 Cell Line	embryonic stem cell
47	chr21:40509400-40510600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr21:40509400-40510600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr21:40509400-40513600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr21:40509600-40509800	Enhancers	Duodenum Mucosa	Duodenum

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