Variant report

Variant	rs9981182
Chromosome Location	chr21:15746310-15746311
allele	G/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	chr21:15738341..15740358-chr21:15745168..15748188,3	MCF-7	breast:
3	chr21:15738717..15742131-chr21:15743462..15746963,4	K562	blood:

Variant related genes	Relation type
ENSG00000155304	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12106397	1.00[AMR][1000 genomes]
rs12329678	1.00[EUR][1000 genomes]
rs12329818	1.00[EUR][1000 genomes]
rs1475892	1.00[EUR][1000 genomes]
rs17001477	1.00[EUR][1000 genomes]
rs28470776	1.00[AMR][1000 genomes]
rs28579323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58041958	1.00[EUR][1000 genomes]
rs59704604	1.00[EUR][1000 genomes]
rs6516815	1.00[EUR][1000 genomes]
rs7275979	1.00[EUR][1000 genomes]
rs7279926	1.00[EUR][1000 genomes]
rs7282081	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8130177	1.00[EUR][1000 genomes]
rs8130525	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8132024	1.00[EUR][1000 genomes]
rs9305297	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9305311	1.00[EUR][1000 genomes]
rs9974277	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9975031	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9976092	1.00[EUR][1000 genomes]
rs9976969	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9977174	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978061	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978892	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978939	1.00[YRI][hapmap]
rs9980948	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9981787	1.00[EUR][1000 genomes]
rs9982477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9982509	1.00[EUR][1000 genomes]
rs9982684	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9982971	1.00[EUR][1000 genomes]
rs9983264	1.00[AMR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15739200-15747800	Weak transcription	Esophagus	oesophagus
2	chr21:15741200-15748000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr21:15741800-15748000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:15743400-15753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:15743800-15750600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:15743800-15750800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr21:15743800-15752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:15743800-15754600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr21:15744000-15749600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:15744200-15747400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr21:15744200-15747600	Strong transcription	HSMM	muscle
12	chr21:15744200-15747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr21:15744200-15749800	Weak transcription	Psoas Muscle	Psoas
14	chr21:15744200-15752400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr21:15744400-15746400	Weak transcription	HepG2	liver
16	chr21:15744400-15747800	Weak transcription	Spleen	Spleen
17	chr21:15744400-15749000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr21:15744400-15749000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:15744400-15750000	Strong transcription	NHDF-Ad	bronchial
20	chr21:15744400-15750600	Strong transcription	Placenta	Placenta
21	chr21:15744600-15746800	Strong transcription	NHEK	skin
22	chr21:15744600-15747800	Weak transcription	Lung	lung
23	chr21:15744600-15748600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr21:15744600-15749000	Weak transcription	Colonic Mucosa	Colon
25	chr21:15744600-15749800	Weak transcription	Small Intestine	intestine
26	chr21:15744600-15750000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr21:15744600-15751000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:15744600-15751000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:15744600-15751400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr21:15744600-15751400	Strong transcription	Fetal Intestine Large	intestine
31	chr21:15744600-15752600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr21:15744600-15752600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr21:15744600-15754600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr21:15744800-15747800	Strong transcription	Hela-S3	cervix
35	chr21:15744800-15750600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr21:15744800-15750600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr21:15744800-15750800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr21:15744800-15750800	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr21:15744800-15750800	Strong transcription	HMEC	breast
40	chr21:15744800-15751400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr21:15744800-15751400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr21:15744800-15751600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr21:15744800-15752000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr21:15744800-15753000	Weak transcription	Fetal Heart	heart
45	chr21:15745000-15746600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr21:15745000-15746600	Strong transcription	Brain Cingulate Gyrus	brain
47	chr21:15745000-15746800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr21:15745000-15750400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr21:15745000-15750400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr21:15745000-15750600	Strong transcription	Adipose Nuclei	Adipose

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