Variant report

Variant	rs9984495
Chromosome Location	chr21:39848966-39848967
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:39844325..39848351-chr21:39848491..39850801,3	MCF-7	breast:
2	chr21:39848201..39851847-chr21:39852141..39856874,4	K562	blood:
3	chr21:39840191..39842812-chr21:39847792..39850262,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3787903	0.84[ASN][1000 genomes]
rs9978004	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1064436	chr21:39846571-39875576	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39843400-39855200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:39843400-39858200	Weak transcription	Esophagus	oesophagus
3	chr21:39845000-39849000	Weak transcription	Right Atrium	heart
4	chr21:39846400-39849000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:39846400-39855600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:39846400-39855800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:39846600-39849400	Weak transcription	Osteobl	bone
8	chr21:39846800-39851400	Enhancers	Thymus	Thymus
9	chr21:39847000-39849600	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr21:39847000-39850800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr21:39847200-39850600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr21:39847200-39850800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:39847400-39852400	Enhancers	Left Ventricle	heart
14	chr21:39847600-39849200	Enhancers	Ovary	ovary
15	chr21:39847600-39851000	Enhancers	Fetal Heart	heart
16	chr21:39847800-39849000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:39847800-39849000	Weak transcription	Aorta	Aorta
18	chr21:39847800-39849000	Weak transcription	Lung	lung
19	chr21:39847800-39849000	Weak transcription	Right Ventricle	heart
20	chr21:39847800-39849200	Weak transcription	HMEC	breast
21	chr21:39847800-39849600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr21:39847800-39849800	Weak transcription	NHEK	skin
23	chr21:39847800-39850000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr21:39847800-39850000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr21:39848000-39849600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr21:39848200-39849000	Bivalent Enhancer	Fetal Thymus	thymus
27	chr21:39848400-39850600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr21:39848400-39850600	Enhancers	Spleen	Spleen
29	chr21:39848400-39858600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr21:39848600-39849400	Enhancers	Primary B cells from cord blood	blood
31	chr21:39848600-39851000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr21:39848800-39849000	Flanking Active TSS	HUVEC	blood vessel
33	chr21:39848800-39849200	Enhancers	Fetal Muscle Leg	muscle
34	chr21:39848800-39851000	Enhancers	Adipose Nuclei	Adipose

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