Variant report

Variant	rs10867932
Chromosome Location	chr9:72322433-72322434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72322031..72323753-chr9:72324057..72326681,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10511968	0.87[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10735563	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10780612	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10780613	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10867996	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11139904	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11139928	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11139962	0.96[CEU][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11139992	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11140074	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12685725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1330241	0.92[EUR][1000 genomes]
rs1854684	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1854685	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2309518	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7862630	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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	10 gene(s)	inside rSNPs	diseases
2	nsv1048622	chr9:72303617-72371795	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10867932	MAMDC2	cis	cerebellum	SCAN
rs10867932	FAM189A2	cis	parietal	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72313000-72333200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:72319400-72330400	Weak transcription	Left Ventricle	heart
3	chr9:72319400-72336600	Weak transcription	NHDF-Ad	bronchial
4	chr9:72319800-72324000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:72320000-72324800	Weak transcription	Primary B cells from cord blood	blood
6	chr9:72320200-72323600	Weak transcription	Fetal Lung	lung
7	chr9:72320400-72332800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:72320600-72323800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr9:72320600-72330200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:72320800-72330600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr9:72320800-72332600	Weak transcription	NH-A	brain
12	chr9:72321000-72324000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:72321000-72327600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr9:72321000-72328000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:72321000-72331600	Weak transcription	Brain Hippocampus Middle	brain
16	chr9:72321400-72323200	Weak transcription	HSMM	muscle
17	chr9:72321400-72332400	Weak transcription	HMEC	breast
18	chr9:72321400-72332600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:72321400-72333200	Weak transcription	Brain Substantia Nigra	brain
20	chr9:72321600-72323600	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:72321600-72326600	Weak transcription	Osteobl	bone
22	chr9:72321600-72327000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:72321600-72327400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:72321600-72330600	Weak transcription	Hela-S3	cervix
25	chr9:72321600-72331400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr9:72321600-72332600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:72321600-72332600	Weak transcription	Placenta	Placenta
28	chr9:72321600-72334400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr9:72321600-72335400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr9:72321800-72327200	Weak transcription	Adipose Nuclei	Adipose
31	chr9:72321800-72327600	Weak transcription	HUVEC	blood vessel
32	chr9:72321800-72333200	Weak transcription	NHLF	lung
33	chr9:72322000-72323800	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr9:72322000-72324200	Weak transcription	Dnd41	blood
35	chr9:72322000-72324600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr9:72322000-72327200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:72322000-72327200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:72322000-72328600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr9:72322000-72333000	Weak transcription	Thymus	Thymus
40	chr9:72322200-72324800	Weak transcription	Liver	Liver
41	chr9:72322200-72325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr9:72322200-72327200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr9:72322200-72329400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr9:72322200-72332600	Weak transcription	Pancreas	Pancrea
45	chr9:72322200-72332600	Weak transcription	Spleen	Spleen
46	chr9:72322200-72338000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr9:72322400-72327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr9:72322400-72329400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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