Variant report

Variant	rs403694
Chromosome Location	chr21:46567625-46567626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46565809..46567896-chr21:46568850..46571602,3	K562	blood:
2	chr21:46562323..46564274-chr21:46565589..46568586,2	K562	blood:
3	chr21:46565818..46567867-chr21:46706137..46708548,2	K562	blood:
4	chr21:46564726..46566629-chr21:46567122..46568782,2	K562	blood:
5	chr21:46564488..46569324-chr21:46569592..46573280,6	K562	blood:
6	chr21:46493532..46495404-chr21:46566523..46568658,2	K562	blood:
7	chr21:46560497..46564169-chr21:46565170..46570508,5	K562	blood:

Variant related genes	Relation type
ENSG00000186866	Chromatin interaction
ENSG00000197381	Chromatin interaction
ENSG00000215447	Chromatin interaction
ENSG00000235374	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2849618	0.80[ASN][1000 genomes]
rs372519	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs377902	0.80[ASN][1000 genomes]
rs394608	0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs394872	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs395761	0.89[YRI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs397092	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs400997	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs407133	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs412646	0.80[ASN][1000 genomes]
rs427943	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1059771	chr21:46561482-46830602	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544481	chr21:46561482-46830602	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46532600-46570600	Weak transcription	Dnd41	blood
2	chr21:46548600-46571600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr21:46550000-46567800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr21:46550400-46571200	Weak transcription	Brain Germinal Matrix	brain
5	chr21:46553400-46568600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr21:46553400-46570600	Weak transcription	Esophagus	oesophagus
7	chr21:46553400-46574600	Weak transcription	Fetal Heart	heart
8	chr21:46555200-46574600	Weak transcription	Right Atrium	heart
9	chr21:46555600-46571600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr21:46555800-46570800	Weak transcription	Fetal Lung	lung
11	chr21:46555800-46571600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr21:46556600-46581000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr21:46557000-46571400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr21:46557000-46604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr21:46557200-46591800	Weak transcription	HUVEC	blood vessel
16	chr21:46557400-46571600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr21:46557400-46577800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:46557600-46573400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr21:46557600-46582600	Weak transcription	Psoas Muscle	Psoas
20	chr21:46558600-46571400	Weak transcription	Colon Smooth Muscle	Colon
21	chr21:46558600-46588800	Weak transcription	Colonic Mucosa	Colon
22	chr21:46558800-46571800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr21:46558800-46571800	Weak transcription	Fetal Intestine Large	intestine
24	chr21:46560800-46578600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr21:46560800-46586400	Weak transcription	Liver	Liver
26	chr21:46561200-46571600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr21:46561400-46571600	Weak transcription	Thymus	Thymus
28	chr21:46561400-46576000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:46562200-46568600	Strong transcription	Hela-S3	cervix
30	chr21:46562800-46568400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr21:46562800-46570200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr21:46562800-46571400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:46562800-46572600	Weak transcription	Brain Anterior Caudate	brain
34	chr21:46563000-46570600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:46563000-46595600	Weak transcription	Pancreas	Pancrea
36	chr21:46563200-46569200	Genic enhancers	HSMM	muscle
37	chr21:46563200-46570800	Weak transcription	Ovary	ovary
38	chr21:46563200-46571600	Weak transcription	NH-A	brain
39	chr21:46563200-46576600	Weak transcription	Brain Hippocampus Middle	brain
40	chr21:46563400-46568000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr21:46563400-46570800	Weak transcription	NHLF	lung
42	chr21:46563600-46567800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:46563600-46571600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr21:46563800-46571000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr21:46564400-46568200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr21:46564600-46569200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr21:46564600-46569400	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr21:46564800-46569200	Strong transcription	Primary T cells from cord blood	blood
49	chr21:46565000-46568400	Strong transcription	Right Ventricle	heart
50	chr21:46565000-46569400	Strong transcription	Spleen	Spleen

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