Variant report

Variant	rs2836810
Chromosome Location	chr21:40360248-40360249
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40177246..40179995-chr21:40359406..40361189,2	K562	blood:
2	chr21:40358454..40361238-chr21:40459279..40461769,2	MCF-7	breast:
3	21:40348344-40365490..21:40748850-40752541	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000227406	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10854393	1.00[CEU][hapmap]
rs10854394	1.00[CEU][hapmap]
rs10854395	1.00[CEU][hapmap]
rs11088460	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11088461	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2410071	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2410072	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2410074	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2410075	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2836809	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59075807	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61018306	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs732340	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73906720	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8126897	1.00[EUR][1000 genomes]
rs8129750	1.00[CEU][hapmap]
rs8133475	1.00[CEU][hapmap]
rs8134059	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs881558	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9636952	0.82[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs973192	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs973193	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9980681	1.00[CEU][hapmap]
rs9981682	1.00[CEU][hapmap]
rs9982548	1.00[CEU][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	nsv1062425	chr21:40172471-40380976	Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544442	chr21:40172471-40380976	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40352400-40370000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr21:40354600-40364600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:40355800-40360400	Enhancers	Fetal Muscle Leg	muscle
4	chr21:40356000-40369400	Enhancers	Left Ventricle	heart
5	chr21:40356200-40361600	Enhancers	Fetal Stomach	stomach
6	chr21:40356600-40361200	Enhancers	Fetal Kidney	kidney
7	chr21:40356800-40360400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr21:40356800-40362800	Enhancers	Right Atrium	heart
9	chr21:40356800-40363000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr21:40357000-40360600	Enhancers	Right Ventricle	heart
11	chr21:40357000-40361800	Enhancers	HepG2	liver
12	chr21:40357400-40361400	Enhancers	Thymus	Thymus
13	chr21:40357400-40363000	Enhancers	NHDF-Ad	bronchial
14	chr21:40357400-40376400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr21:40357600-40361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr21:40357600-40361200	Weak transcription	HUVEC	blood vessel
17	chr21:40357600-40361600	Enhancers	Brain Germinal Matrix	brain
18	chr21:40357800-40361000	Weak transcription	Small Intestine	intestine
19	chr21:40357800-40361600	Weak transcription	Pancreas	Pancrea
20	chr21:40357800-40361800	Weak transcription	Liver	Liver
21	chr21:40358000-40360400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr21:40358000-40362400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr21:40358000-40363000	Enhancers	NHLF	lung
24	chr21:40358200-40360600	Weak transcription	Colonic Mucosa	Colon
25	chr21:40358200-40361000	Weak transcription	Esophagus	oesophagus
26	chr21:40358200-40361600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr21:40358200-40361600	Enhancers	Stomach Smooth Muscle	stomach
28	chr21:40358400-40360400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr21:40358400-40360600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr21:40358400-40360800	Weak transcription	NHEK	skin
31	chr21:40358400-40361600	Weak transcription	Ovary	ovary
32	chr21:40358400-40363000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr21:40358600-40360600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:40358600-40360800	Weak transcription	Spleen	Spleen
35	chr21:40358600-40361400	Weak transcription	HMEC	breast
36	chr21:40358600-40362800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr21:40358600-40363000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr21:40358600-40363800	Enhancers	Dnd41	blood
39	chr21:40358800-40361200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr21:40358800-40363800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr21:40359000-40360600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr21:40359000-40360800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr21:40359000-40361000	Enhancers	Rectal Smooth Muscle	rectum
44	chr21:40359000-40361200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr21:40359000-40363800	Enhancers	H1 Cell Line	embryonic stem cell
46	chr21:40359000-40365400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr21:40359200-40360800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr21:40359200-40362400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:40359200-40362800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr21:40359400-40360800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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