Variant report

Variant	rs1886170
Chromosome Location	chr13:30390421-30390422
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	chr13:30386203..30387833-chr13:30389830..30392025,3	MCF-7	breast:
2	chr13:30388860..30391420-chr13:30421974..30424803,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11147398	0.89[YRI][hapmap]
rs17073936	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1772727	0.82[AFR][1000 genomes]
rs182178	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2234417	1.00[CHD][hapmap]
rs2388244	0.93[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2388245	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs278037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4083610	0.91[YRI][hapmap]
rs4769774	1.00[ASW][hapmap];0.88[CEU][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.92[LWK][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9506229	0.91[YRI][hapmap]
rs9506230	0.88[AFR][1000 genomes]
rs9508555	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs9508556	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9550494	0.91[YRI][hapmap]
rs9551744	0.91[YRI][hapmap]

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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1886170	MTUS2	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:30378000-30391800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr13:30381600-30390600	Weak transcription	Primary B cells from peripheral blood	blood
4	chr13:30382600-30390800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr13:30385000-30391400	Weak transcription	Osteobl	bone
6	chr13:30385200-30391200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr13:30385600-30391400	Weak transcription	Brain Germinal Matrix	brain
8	chr13:30385800-30390600	Weak transcription	Gastric	stomach
9	chr13:30385800-30390600	Weak transcription	Psoas Muscle	Psoas
10	chr13:30385800-30391200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr13:30385800-30391800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr13:30385800-30403000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:30385800-30406800	Weak transcription	Pancreas	Pancrea
14	chr13:30385800-30410600	Weak transcription	Small Intestine	intestine
15	chr13:30386000-30390600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr13:30386000-30390600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:30386000-30391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr13:30386000-30391000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr13:30386000-30391400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr13:30386000-30406200	Weak transcription	Fetal Intestine Small	intestine
21	chr13:30386200-30391000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:30386200-30392200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr13:30386400-30390600	Weak transcription	Ovary	ovary
24	chr13:30386600-30391000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:30386800-30391200	Weak transcription	Liver	Liver
26	chr13:30386800-30394000	Weak transcription	Stomach Mucosa	stomach
27	chr13:30387600-30393600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:30388000-30390600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr13:30388200-30391200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr13:30388200-30391400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr13:30388200-30391600	Weak transcription	Fetal Brain Female	brain
32	chr13:30388400-30391200	Weak transcription	Brain Angular Gyrus	brain
33	chr13:30388800-30391200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr13:30388800-30391800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr13:30389000-30390600	Weak transcription	Aorta	Aorta
36	chr13:30389000-30391000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr13:30389000-30391000	Weak transcription	Left Ventricle	heart
38	chr13:30389000-30395800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr13:30389200-30391600	Enhancers	Brain Substantia Nigra	brain
40	chr13:30389200-30393600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr13:30389400-30391200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr13:30389600-30392400	Enhancers	Brain Cingulate Gyrus	brain
43	chr13:30389800-30390600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr13:30389800-30390800	Enhancers	NHDF-Ad	bronchial
45	chr13:30389800-30391200	Weak transcription	Colon Smooth Muscle	Colon
46	chr13:30389800-30391800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr13:30389800-30394200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr13:30390000-30390800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr13:30390000-30391000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr13:30390000-30391000	Weak transcription	Brain Anterior Caudate	brain

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