Variant report

Variant	rs2836451
Chromosome Location	chr21:39878662-39878663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:39868178..39870338-chr21:39876801..39879710,3	MCF-7	breast:
2	chr21:39876376..39879453-chr21:40175999..40179408,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12626596	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17193997	0.93[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17285245	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17285252	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2836453	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3787906	0.92[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3787909	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39860400-39879000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:39867000-39878800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr21:39875000-39879200	Flanking Active TSS	HUVEC	blood vessel
4	chr21:39875200-39879400	Active TSS	Aorta	Aorta
5	chr21:39876200-39878800	Weak transcription	Fetal Lung	lung
6	chr21:39876200-39878800	Weak transcription	Right Ventricle	heart
7	chr21:39877000-39879200	Enhancers	NH-A	brain
8	chr21:39877000-39879400	Enhancers	Fetal Heart	heart
9	chr21:39877200-39879000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr21:39877200-39879400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr21:39877200-39880000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:39877400-39878800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr21:39877400-39879000	Enhancers	Fetal Stomach	stomach
14	chr21:39877400-39879200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr21:39877400-39879200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr21:39877400-39879600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr21:39877600-39879000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:39877600-39879600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:39877600-39879800	Weak transcription	Spleen	Spleen
20	chr21:39877600-39880400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr21:39877800-39879000	Enhancers	Fetal Brain Male	brain
22	chr21:39878000-39879200	Enhancers	Primary B cells from cord blood	blood
23	chr21:39878200-39879200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr21:39878200-39879400	Enhancers	Small Intestine	intestine
25	chr21:39878200-39879400	Enhancers	HepG2	liver
26	chr21:39878200-39879600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr21:39878200-39879600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr21:39878400-39879200	Enhancers	H1 Cell Line	embryonic stem cell
29	chr21:39878400-39879200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr21:39878400-39879400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr21:39878400-39879800	Enhancers	Fetal Muscle Leg	muscle
32	chr21:39878600-39878800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr21:39878600-39878800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr21:39878600-39878800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr21:39878600-39878800	Active TSS	Duodenum Mucosa	Duodenum
36	chr21:39878600-39879000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr21:39878600-39879000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr21:39878600-39879000	Active TSS	Primary T cells from cord blood	blood
39	chr21:39878600-39879000	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr21:39878600-39879000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr21:39878600-39879000	Active TSS	Adipose Nuclei	Adipose
42	chr21:39878600-39879000	Flanking Active TSS	Fetal Thymus	thymus
43	chr21:39878600-39879000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr21:39878600-39879000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr21:39878600-39879000	Active TSS	Right Atrium	heart
46	chr21:39878600-39879000	Flanking Active TSS	Thymus	Thymus
47	chr21:39878600-39879200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr21:39878600-39879200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr21:39878600-39879200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
50	chr21:39878600-39879400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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