Variant report

Variant	rs17306192
Chromosome Location	chr21:15744594-15744595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:15743793..15747020-chr21:15754018..15757060,4	K562	blood:
2	chr21:15733160..15735734-chr21:15743714..15745323,2	K562	blood:
3	chr21:15738717..15742131-chr21:15743462..15746963,4	K562	blood:

Variant related genes	Relation type
ENSG00000155304	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1123271	1.00[JPT][hapmap]
rs1297125	1.00[JPT][hapmap]
rs17002266	1.00[JPT][hapmap]
rs17002633	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002662	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002684	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17240438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17306283	0.83[AMR][1000 genomes]
rs2822560	1.00[JPT][hapmap]
rs2822639	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3178188	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs909257	1.00[JPT][hapmap]
rs914115	1.00[JPT][hapmap]
rs9974725	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9979385	0.87[EUR][1000 genomes];1.00[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	nsv1064554	chr21:15676222-15809321	Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1061686	chr21:15724570-15765777	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv913403	chr21:15743387-15786271	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15731600-15744800	Weak transcription	Hela-S3	cervix
2	chr21:15734400-15745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:15734600-15744800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:15734600-15744800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr21:15734600-15745400	Weak transcription	HUVEC	blood vessel
6	chr21:15734800-15745400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr21:15735200-15744600	Weak transcription	NHEK	skin
8	chr21:15735200-15744800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:15735200-15744800	Weak transcription	HMEC	breast
10	chr21:15735200-15745200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:15737400-15745400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:15738600-15746000	Weak transcription	Ovary	ovary
13	chr21:15739000-15744600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:15739200-15745000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr21:15739200-15747800	Weak transcription	Esophagus	oesophagus
16	chr21:15739600-15745000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr21:15739800-15744600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr21:15739800-15745600	Weak transcription	GM12878-XiMat	blood
19	chr21:15739800-15746000	Weak transcription	K562	blood
20	chr21:15740400-15744800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr21:15740400-15745200	Weak transcription	Brain Germinal Matrix	brain
22	chr21:15740400-15746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr21:15740600-15744800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr21:15740600-15745000	Weak transcription	Primary B cells from cord blood	blood
25	chr21:15740600-15745000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr21:15740600-15745400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr21:15740600-15746000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr21:15740600-15746000	Weak transcription	NHLF	lung
29	chr21:15740800-15746000	Weak transcription	Left Ventricle	heart
30	chr21:15741000-15744600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr21:15741000-15745000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:15741000-15745000	Weak transcription	Fetal Brain Female	brain
33	chr21:15741000-15745200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr21:15741000-15745400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr21:15741000-15746000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr21:15741000-15746000	Weak transcription	Fetal Muscle Leg	muscle
37	chr21:15741200-15744600	Weak transcription	Fetal Intestine Large	intestine
38	chr21:15741200-15744800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr21:15741200-15745000	Weak transcription	Brain Cingulate Gyrus	brain
40	chr21:15741200-15745800	Weak transcription	Brain Hippocampus Middle	brain
41	chr21:15741200-15745800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr21:15741200-15745800	Weak transcription	Thymus	Thymus
43	chr21:15741200-15746000	Weak transcription	Aorta	Aorta
44	chr21:15741200-15746000	Weak transcription	Right Ventricle	heart
45	chr21:15741200-15748000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr21:15741400-15745400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr21:15741400-15745800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr21:15741600-15745000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr21:15741600-15745800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr21:15741800-15744600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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