Variant report

Variant	rs9636948
Chromosome Location	chr21:40133278-40133279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40131381..40133556-chr21:40182644..40184229,2	K562	blood:
2	chr21:40130290..40133520-chr21:40176178..40179147,4	K562	blood:
3	chr21:40131678..40133520-chr21:40176178..40178234,2	K562	blood:

Variant related genes	Relation type
ENSG00000157557	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1013913	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1013914	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1013915	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11908743	0.81[ASN][1000 genomes]
rs13052279	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2252185	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2410052	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836661	0.81[ASN][1000 genomes]
rs2836664	0.82[ASN][1000 genomes]
rs2836665	0.87[ASN][1000 genomes]
rs2836666	0.87[ASN][1000 genomes]
rs2836667	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2836668	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836669	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2836671	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836672	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836673	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34092958	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9636946	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9636947	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9636949	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060405	chr21:40095523-40159813	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1057356	chr21:40103881-40147363	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv913739	chr21:40103951-40152372	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv913740	chr21:40103951-40157124	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1066051	chr21:40114130-40147363	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1057627	chr21:40114130-40151977	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1060535	chr21:40114130-40155067	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1063936	chr21:40114130-40159150	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1058591	chr21:40114130-40190594	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv913741	chr21:40116044-40142854	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv459254	chr21:40116044-40152372	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv459255	chr21:40116044-40152372	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv459256	chr21:40116044-40152372	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv459257	chr21:40116044-40152372	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv470900	chr21:40116044-40152372	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv587475	chr21:40116044-40152372	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv459258	chr21:40116044-40157124	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv587476	chr21:40116044-40157124	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv913742	chr21:40116044-40157124	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv516348	chr21:40116044-40161381	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	nsv913743	chr21:40116044-40161381	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv1055623	chr21:40118451-40161072	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv1056485	chr21:40128875-40159813	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40124000-40134000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr21:40124200-40133400	Weak transcription	Fetal Intestine Large	intestine
3	chr21:40124200-40134200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40125400-40138800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr21:40126400-40139000	Weak transcription	Esophagus	oesophagus
6	chr21:40126400-40139000	Weak transcription	Right Atrium	heart
7	chr21:40128200-40144600	Weak transcription	Hela-S3	cervix
8	chr21:40128600-40139000	Weak transcription	Left Ventricle	heart
9	chr21:40129000-40133400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:40129200-40133400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr21:40130000-40138600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr21:40130000-40140400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:40130600-40134000	Enhancers	Rectal Smooth Muscle	rectum
14	chr21:40130800-40134000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:40131000-40133800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr21:40131000-40138400	Weak transcription	Stomach Mucosa	stomach
17	chr21:40131200-40134000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:40131200-40139000	Weak transcription	Gastric	stomach
19	chr21:40131400-40133400	Weak transcription	NHDF-Ad	bronchial
20	chr21:40131400-40134000	Enhancers	Fetal Stomach	stomach
21	chr21:40131600-40133800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr21:40131800-40133800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr21:40132200-40133400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:40132200-40133400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr21:40132200-40133400	Weak transcription	HSMMtube	muscle
26	chr21:40132400-40133400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr21:40132400-40133400	Weak transcription	Fetal Thymus	thymus
28	chr21:40132400-40133400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr21:40132400-40133600	Weak transcription	NHLF	lung
30	chr21:40132400-40134000	Enhancers	Fetal Intestine Small	intestine
31	chr21:40132400-40138800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr21:40132600-40133600	Weak transcription	Fetal Lung	lung
33	chr21:40132600-40138400	Weak transcription	Primary hematopoietic stem cells	blood
34	chr21:40132600-40144800	Weak transcription	Aorta	Aorta
35	chr21:40132600-40144800	Weak transcription	Ovary	ovary
36	chr21:40132800-40133600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr21:40132800-40134000	Enhancers	Colon Smooth Muscle	Colon
38	chr21:40132800-40134000	Enhancers	Fetal Muscle Leg	muscle
39	chr21:40132800-40134200	Enhancers	Fetal Heart	heart

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