Variant report

Variant	rs10813990
Chromosome Location	chr9:33506670-33506671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:33167075..33168598-chr9:33506552..33508711,2	MCF-7	breast:
2	chr9:33506278..33509110-chr9:33511393..33513037,2	MCF-7	breast:
3	chr9:33505343..33508128-chr9:33516249..33518237,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000086062	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10758210	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10813989	0.99[ASN][1000 genomes]
rs10813991	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10971538	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10971541	0.94[ASN][1000 genomes]
rs10971543	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10971544	0.96[CEU][hapmap];0.81[JPT][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11787590	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12002293	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2777740	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2777741	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2777742	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2777744	0.96[CEU][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap]
rs2777753	0.84[CEU][hapmap];0.88[TSI][hapmap]
rs2785205	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2785206	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2989934	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2989935	0.85[ASN][1000 genomes]
rs2989938	0.83[EUR][1000 genomes]
rs2992817	0.84[CEU][hapmap];0.86[TSI][hapmap]
rs2992822	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2992823	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2992824	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2992825	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2992826	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2992827	0.90[ASN][1000 genomes]
rs2992828	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2992829	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4097291	0.86[ASN][1000 genomes]
rs521769	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61294221	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6476412	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7019561	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7023317	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7032025	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7032925	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7033908	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7047660	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73482878	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9696671	0.89[AMR][1000 genomes];0.88[EUR][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	nsv1024207	chr9:33296368-33574892	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv972306	chr9:33486353-33510883	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv427840	chr9:33495185-33989975	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:33475000-33510400	Weak transcription	Fetal Lung	lung
2	chr9:33475000-33510600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:33478800-33510600	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:33495600-33510200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr9:33498200-33510400	Weak transcription	Fetal Stomach	stomach
6	chr9:33500000-33510600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr9:33500800-33510800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:33502800-33510600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr9:33502800-33510800	Weak transcription	Left Ventricle	heart
10	chr9:33504800-33510600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:33504800-33510600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:33505000-33508800	Weak transcription	Dnd41	blood
13	chr9:33505200-33507400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:33505400-33510600	Weak transcription	Right Ventricle	heart
15	chr9:33505800-33506800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:33505800-33506800	Enhancers	HUVEC	blood vessel
17	chr9:33505800-33507400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:33506000-33506800	Enhancers	NHDF-Ad	bronchial
19	chr9:33506000-33507000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:33506000-33507000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr9:33506000-33507400	Enhancers	HMEC	breast
22	chr9:33506200-33506800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:33506200-33506800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:33506200-33506800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:33506200-33506800	Enhancers	Esophagus	oesophagus
26	chr9:33506200-33506800	Enhancers	NHEK	skin
27	chr9:33506200-33507000	Enhancers	HSMM	muscle
28	chr9:33506200-33507000	Enhancers	NHLF	lung
29	chr9:33506200-33507200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:33506200-33507200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:33506200-33507200	Enhancers	HepG2	liver
32	chr9:33506200-33507400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:33506200-33507400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr9:33506200-33507400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr9:33506200-33507400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr9:33506200-33507400	Flanking Active TSS	A549	lung
37	chr9:33506200-33507400	Enhancers	K562	blood
38	chr9:33506400-33507400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr9:33506400-33507400	Flanking Active TSS	Hela-S3	cervix
40	chr9:33506400-33510600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr9:33506600-33506800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:33506600-33506800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr9:33506600-33507000	Enhancers	HSMMtube	muscle
44	chr9:33506600-33507000	Active TSS	NH-A	brain
45	chr9:33506600-33507000	Active TSS	Osteobl	bone
46	chr9:33506600-33507400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:33506600-33507400	Enhancers	Placenta Amnion	Placenta Amnion

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