Variant report

Variant	rs2836814
Chromosome Location	chr21:40364655-40364656
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40175721..40178451-chr21:40363610..40366022,2	MCF-7	breast:
2	chr21:40356286..40358382-chr21:40363129..40364853,2	K562	blood:
3	chr21:40178699..40181140-chr21:40363859..40366639,2	MCF-7	breast:
4	chr21:40363729..40365519-chr21:40450933..40453714,2	MCF-7	breast:
5	21:40348344-40365490..21:40748850-40752541	Hela-S3	cervix:

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2836815	0.91[CEU][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7277840	0.86[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:83 , 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	chr21:40356000-40369400	Enhancers	Left Ventricle	heart
3	chr21:40357400-40376400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr21:40359000-40365400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr21:40359400-40365000	Enhancers	Placenta	Placenta
6	chr21:40359800-40368400	Enhancers	Fetal Heart	heart
7	chr21:40360000-40365000	Enhancers	Fetal Intestine Large	intestine
8	chr21:40360000-40369200	Enhancers	Fetal Lung	lung
9	chr21:40360000-40370000	Enhancers	Primary hematopoietic stem cells	blood
10	chr21:40360400-40364800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr21:40360400-40368600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr21:40360800-40369600	Enhancers	Fetal Thymus	thymus
13	chr21:40360800-40376600	Weak transcription	Gastric	stomach
14	chr21:40361000-40364800	Enhancers	Lung	lung
15	chr21:40361200-40364800	Enhancers	HUVEC	blood vessel
16	chr21:40361400-40364800	Enhancers	Spleen	Spleen
17	chr21:40362000-40364800	Weak transcription	Brain Anterior Caudate	brain
18	chr21:40362000-40366400	Enhancers	Adipose Nuclei	Adipose
19	chr21:40362000-40368600	Enhancers	Fetal Stomach	stomach
20	chr21:40362000-40369600	Enhancers	Fetal Muscle Leg	muscle
21	chr21:40362200-40365800	Weak transcription	Liver	Liver
22	chr21:40362200-40366200	Enhancers	Colon Smooth Muscle	Colon
23	chr21:40362200-40367200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr21:40362200-40369200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr21:40362400-40366600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr21:40362600-40364800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:40362600-40364800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr21:40362600-40368000	Enhancers	HepG2	liver
29	chr21:40362600-40376800	Weak transcription	Aorta	Aorta
30	chr21:40362800-40365600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr21:40362800-40365800	Weak transcription	Psoas Muscle	Psoas
32	chr21:40362800-40367000	Enhancers	Stomach Smooth Muscle	stomach
33	chr21:40362800-40367200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr21:40362800-40367600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr21:40362800-40367600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr21:40363000-40364800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr21:40363000-40364800	Weak transcription	HSMM	muscle
38	chr21:40363400-40364800	Enhancers	Esophagus	oesophagus
39	chr21:40363400-40364800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr21:40363600-40365600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr21:40363600-40367000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr21:40363600-40367000	Enhancers	Right Atrium	heart
43	chr21:40363600-40367200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr21:40363600-40375800	Weak transcription	Colonic Mucosa	Colon
45	chr21:40363800-40365000	Enhancers	Ovary	ovary
46	chr21:40363800-40366800	Enhancers	HMEC	breast
47	chr21:40363800-40367600	Weak transcription	Dnd41	blood
48	chr21:40364000-40364800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:40364000-40365200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr21:40364000-40365400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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