Variant report

Variant	rs1052684
Chromosome Location	chr9:72969517-72969518
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72962840..72966479-chr9:72967543..72971409,5	K562	blood:
2	chr9:72968867..72970637-chr9:72974128..72976296,2	K562	blood:
3	chr9:72957661..72959834-chr9:72968408..72970281,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10119662	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10125617	0.86[JPT][hapmap]
rs10780923	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10868720	0.87[CEU][hapmap];0.86[JPT][hapmap]
rs10868752	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10868757	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10868799	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10868801	0.87[JPT][hapmap]
rs10868806	0.85[JPT][hapmap]
rs11142350	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1536956	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2026136	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2182736	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2182739	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2210086	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2309611	0.95[CEU][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2309612	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2309642	0.81[AMR][1000 genomes]
rs2309647	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3847321	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3858107	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4375070	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4745000	0.86[JPT][hapmap]
rs6560127	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7021420	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7027209	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7043043	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7469211	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7866915	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650766	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv831615	chr9:72852705-73019692	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1049132	chr9:72895382-73005897	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72936000-72970800	Weak transcription	Psoas Muscle	Psoas
2	chr9:72939600-72974000	Weak transcription	Colon Smooth Muscle	Colon
3	chr9:72943600-72970800	Weak transcription	Gastric	stomach
4	chr9:72944000-72970800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:72944000-72974600	Weak transcription	Aorta	Aorta
6	chr9:72944000-72978800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr9:72944000-73002600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:72944200-72974000	Weak transcription	Spleen	Spleen
9	chr9:72944200-72974800	Weak transcription	Lung	lung
10	chr9:72948000-72983400	Weak transcription	HSMMtube	muscle
11	chr9:72948400-72980800	Weak transcription	NHEK	skin
12	chr9:72952200-72972800	Weak transcription	A549	lung
13	chr9:72962000-72972000	Weak transcription	Brain Anterior Caudate	brain
14	chr9:72962200-72974200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr9:72963800-72972400	Weak transcription	Thymus	Thymus
16	chr9:72963800-72977800	Weak transcription	Esophagus	oesophagus
17	chr9:72964200-72980800	Weak transcription	Pancreas	Pancrea
18	chr9:72964400-72974000	Weak transcription	Fetal Intestine Small	intestine
19	chr9:72964800-72975200	Weak transcription	Primary B cells from cord blood	blood
20	chr9:72965000-72973600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:72965400-72971000	Weak transcription	HepG2	liver
22	chr9:72965400-72975000	Weak transcription	Brain Germinal Matrix	brain
23	chr9:72965600-72970800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr9:72965600-72971000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr9:72965600-72974600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr9:72965800-72974000	Weak transcription	Fetal Brain Female	brain
27	chr9:72965800-72974400	Weak transcription	Brain Substantia Nigra	brain
28	chr9:72965800-72974400	Weak transcription	GM12878-XiMat	blood
29	chr9:72965800-72974600	Weak transcription	Fetal Brain Male	brain
30	chr9:72965800-72976000	Weak transcription	Hela-S3	cervix
31	chr9:72965800-72976400	Weak transcription	Fetal Lung	lung
32	chr9:72965800-72979600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr9:72966000-72971800	Weak transcription	Brain Hippocampus Middle	brain
34	chr9:72966000-72972400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr9:72966200-72970800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:72966200-72972000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:72966200-72972200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr9:72966200-72972400	Weak transcription	Left Ventricle	heart
39	chr9:72966400-72971800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:72966400-72974600	Weak transcription	Fetal Intestine Large	intestine
41	chr9:72966400-72978400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:72966600-72974400	Weak transcription	HMEC	breast
43	chr9:72966600-72983000	Weak transcription	NHDF-Ad	bronchial
44	chr9:72966800-72969600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr9:72966800-72970400	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr9:72966800-72972000	Weak transcription	Fetal Stomach	stomach
47	chr9:72966800-72974600	Weak transcription	Right Ventricle	heart
48	chr9:72966800-72978200	Weak transcription	NH-A	brain
49	chr9:72967000-72970800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr9:72967000-72971000	Weak transcription	Ovary	ovary

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