Variant report

Variant	rs9978603
Chromosome Location	chr21:40363304-40363305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40186694..40188983-chr21:40361841..40364418,2	MCF-7	breast:
2	chr21:40356286..40358382-chr21:40363129..40364853,2	K562	blood:
3	chr21:40282115..40285286-chr21:40361301..40363666,3	MCF-7	breast:
4	21:40348344-40365490..21:40748850-40752541	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000227406	Chromatin interaction
ENSG00000182093	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2836806	1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836807	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836808	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28673525	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4817978	0.90[ASN][1000 genomes]
rs58301407	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60329156	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60789326	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73364803	0.96[EUR][1000 genomes]
rs9976408	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9976856	0.90[EUR][1000 genomes]
rs9976927	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9985005	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[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	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:75 , 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	chr21:40356000-40369400	Enhancers	Left Ventricle	heart
4	chr21:40357400-40376400	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr21:40358600-40363800	Enhancers	Dnd41	blood
6	chr21:40358800-40363800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr21:40359000-40363800	Enhancers	H1 Cell Line	embryonic stem cell
8	chr21:40359000-40365400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:40359400-40363800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:40359400-40365000	Enhancers	Placenta	Placenta
11	chr21:40359600-40364200	Enhancers	Fetal Intestine Small	intestine
12	chr21:40359800-40364400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr21:40359800-40368400	Enhancers	Fetal Heart	heart
14	chr21:40360000-40365000	Enhancers	Fetal Intestine Large	intestine
15	chr21:40360000-40369200	Enhancers	Fetal Lung	lung
16	chr21:40360000-40370000	Enhancers	Primary hematopoietic stem cells	blood
17	chr21:40360400-40364800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr21:40360400-40368600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr21:40360800-40369600	Enhancers	Fetal Thymus	thymus
20	chr21:40360800-40376600	Weak transcription	Gastric	stomach
21	chr21:40361000-40364000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:40361000-40364800	Enhancers	Lung	lung
23	chr21:40361200-40363400	Enhancers	Fetal Muscle Trunk	muscle
24	chr21:40361200-40364800	Enhancers	HUVEC	blood vessel
25	chr21:40361400-40363400	Enhancers	HMEC	breast
26	chr21:40361400-40364600	Enhancers	Right Ventricle	heart
27	chr21:40361400-40364800	Enhancers	Spleen	Spleen
28	chr21:40362000-40364200	Weak transcription	Pancreas	Pancrea
29	chr21:40362000-40364800	Weak transcription	Brain Anterior Caudate	brain
30	chr21:40362000-40366400	Enhancers	Adipose Nuclei	Adipose
31	chr21:40362000-40368600	Enhancers	Fetal Stomach	stomach
32	chr21:40362000-40369600	Enhancers	Fetal Muscle Leg	muscle
33	chr21:40362200-40363600	Enhancers	Rectal Smooth Muscle	rectum
34	chr21:40362200-40365800	Weak transcription	Liver	Liver
35	chr21:40362200-40366200	Enhancers	Colon Smooth Muscle	Colon
36	chr21:40362200-40367200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr21:40362200-40369200	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr21:40362400-40364200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr21:40362400-40366600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr21:40362600-40364800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr21:40362600-40364800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr21:40362600-40368000	Enhancers	HepG2	liver
43	chr21:40362600-40376800	Weak transcription	Aorta	Aorta
44	chr21:40362800-40363400	Weak transcription	Esophagus	oesophagus
45	chr21:40362800-40363600	Weak transcription	Right Atrium	heart
46	chr21:40362800-40363800	Weak transcription	Ovary	ovary
47	chr21:40362800-40364000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr21:40362800-40364200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr21:40362800-40364200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr21:40362800-40364200	Weak transcription	Monocytes-CD14+_RO01746	blood

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