Variant report

Variant	rs17002670
Chromosome Location	chr21:15745890-15745891
allele	A/G
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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17002566	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17002638	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822641	0.80[ASW][hapmap];0.85[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822643	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2822645	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59442083	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60331773	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7275514	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7276997	1.00[CEU][hapmap];0.85[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7278449	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73339743	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341927	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73341928	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73892152	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8134289	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[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	chr21:15738600-15746000	Weak transcription	Ovary	ovary
2	chr21:15739200-15747800	Weak transcription	Esophagus	oesophagus
3	chr21:15739800-15746000	Weak transcription	K562	blood
4	chr21:15740400-15746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr21:15740600-15746000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr21:15740600-15746000	Weak transcription	NHLF	lung
7	chr21:15740800-15746000	Weak transcription	Left Ventricle	heart
8	chr21:15741000-15746000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr21:15741000-15746000	Weak transcription	Fetal Muscle Leg	muscle
10	chr21:15741200-15746000	Weak transcription	Aorta	Aorta
11	chr21:15741200-15746000	Weak transcription	Right Ventricle	heart
12	chr21:15741200-15748000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:15741800-15748000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr21:15743400-15746000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr21:15743400-15753200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr21:15743800-15750600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr21:15743800-15750800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr21:15743800-15752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:15743800-15754600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr21:15744000-15749600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr21:15744200-15746000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr21:15744200-15746000	Weak transcription	Fetal Intestine Small	intestine
23	chr21:15744200-15746000	Weak transcription	Fetal Stomach	stomach
24	chr21:15744200-15747400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr21:15744200-15747600	Strong transcription	HSMM	muscle
26	chr21:15744200-15747800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr21:15744200-15749800	Weak transcription	Psoas Muscle	Psoas
28	chr21:15744200-15752400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr21:15744400-15746000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr21:15744400-15746000	Weak transcription	Gastric	stomach
31	chr21:15744400-15746400	Weak transcription	HepG2	liver
32	chr21:15744400-15747800	Weak transcription	Spleen	Spleen
33	chr21:15744400-15749000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:15744400-15749000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr21:15744400-15750000	Strong transcription	NHDF-Ad	bronchial
36	chr21:15744400-15750600	Strong transcription	Placenta	Placenta
37	chr21:15744600-15746800	Strong transcription	NHEK	skin
38	chr21:15744600-15747800	Weak transcription	Lung	lung
39	chr21:15744600-15748600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr21:15744600-15749000	Weak transcription	Colonic Mucosa	Colon
41	chr21:15744600-15749800	Weak transcription	Small Intestine	intestine
42	chr21:15744600-15750000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr21:15744600-15751000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr21:15744600-15751000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr21:15744600-15751400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr21:15744600-15751400	Strong transcription	Fetal Intestine Large	intestine
47	chr21:15744600-15752600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr21:15744600-15752600	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr21:15744600-15754600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr21:15744800-15747800	Strong transcription	Hela-S3	cervix

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