Variant report

Variant	rs9636952
Chromosome Location	chr21:40359267-40359268
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40338908..40342135-chr21:40355414..40359541,3	K562	blood:
2	chr21:40358454..40361238-chr21:40459279..40461769,2	MCF-7	breast:
3	chr21:40177341..40179310-chr21:40356507..40359292,3	K562	blood:
4	21:40348344-40365490..21:40748850-40752541	Hela-S3	cervix:

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

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11088460	1.00[EUR][1000 genomes]
rs11088461	1.00[EUR][1000 genomes]
rs2410071	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2410072	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2410074	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2410075	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2836809	0.82[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2836810	0.82[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs732340	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73906720	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8126897	1.00[EUR][1000 genomes]
rs8134059	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs881558	1.00[EUR][1000 genomes]
rs973192	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs973193	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40351000-40359600	Enhancers	Primary hematopoietic stem cells	blood
2	chr21:40352400-40370000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:40353600-40359600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:40354000-40359400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:40354600-40359400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr21:40354600-40359400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:40354600-40364600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:40354800-40359400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr21:40355200-40359600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr21:40355800-40360000	Enhancers	HSMMtube	muscle
11	chr21:40355800-40360400	Enhancers	Fetal Muscle Leg	muscle
12	chr21:40356000-40369400	Enhancers	Left Ventricle	heart
13	chr21:40356200-40359400	Enhancers	Fetal Lung	lung
14	chr21:40356200-40361600	Enhancers	Fetal Stomach	stomach
15	chr21:40356600-40361200	Enhancers	Fetal Kidney	kidney
16	chr21:40356800-40360400	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr21:40356800-40362800	Enhancers	Right Atrium	heart
18	chr21:40356800-40363000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:40357000-40360600	Enhancers	Right Ventricle	heart
20	chr21:40357000-40361800	Enhancers	HepG2	liver
21	chr21:40357200-40359800	Enhancers	Psoas Muscle	Psoas
22	chr21:40357200-40360000	Enhancers	Lung	lung
23	chr21:40357400-40359400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr21:40357400-40359600	Weak transcription	Aorta	Aorta
25	chr21:40357400-40359600	Enhancers	Colon Smooth Muscle	Colon
26	chr21:40357400-40361400	Enhancers	Thymus	Thymus
27	chr21:40357400-40363000	Enhancers	NHDF-Ad	bronchial
28	chr21:40357400-40376400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr21:40357600-40361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr21:40357600-40361200	Weak transcription	HUVEC	blood vessel
31	chr21:40357600-40361600	Enhancers	Brain Germinal Matrix	brain
32	chr21:40357800-40359600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr21:40357800-40360000	Weak transcription	Fetal Intestine Large	intestine
34	chr21:40357800-40361000	Weak transcription	Small Intestine	intestine
35	chr21:40357800-40361600	Weak transcription	Pancreas	Pancrea
36	chr21:40357800-40361800	Weak transcription	Liver	Liver
37	chr21:40358000-40359600	Weak transcription	Fetal Intestine Small	intestine
38	chr21:40358000-40359800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr21:40358000-40360400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr21:40358000-40362400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr21:40358000-40363000	Enhancers	NHLF	lung
42	chr21:40358200-40359400	Weak transcription	Placenta	Placenta
43	chr21:40358200-40359600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr21:40358200-40360000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr21:40358200-40360600	Weak transcription	Colonic Mucosa	Colon
46	chr21:40358200-40361000	Weak transcription	Esophagus	oesophagus
47	chr21:40358200-40361600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr21:40358200-40361600	Enhancers	Stomach Smooth Muscle	stomach
49	chr21:40358400-40359800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
50	chr21:40358400-40360400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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