Variant report

Variant	rs1146267
Chromosome Location	chr1:95220161-95220162
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	chr1:95219225..95221753-chr1:95222349..95224941,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11165274	1.00[JPT][hapmap]
rs1246022	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12562602	1.00[MEX][hapmap]
rs1689176	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2781130	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2802094	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2991286	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3818929	1.00[JPT][hapmap]
rs4847359	1.00[GIH][hapmap]
rs4847368	1.00[JPT][hapmap]
rs6670825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9432570	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9432571	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1146267	TPM2	trans	lymphoblastoid	seeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95213200-95220400	Weak transcription	Left Ventricle	heart
2	chr1:95215400-95220600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:95215400-95221400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:95218600-95221400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:95218600-95221800	Enhancers	Liver	Liver
6	chr1:95218600-95221800	Enhancers	Fetal Heart	heart
7	chr1:95218600-95222000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:95218600-95223800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:95218600-95224400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:95218800-95220400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr1:95218800-95220600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:95218800-95220800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:95218800-95221000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:95218800-95221800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:95218800-95223400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:95218800-95223800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:95218800-95223800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:95218800-95223800	Enhancers	NH-A	brain
19	chr1:95218800-95224000	Enhancers	NHDF-Ad	bronchial
20	chr1:95218800-95224000	Enhancers	NHLF	lung
21	chr1:95219000-95220600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:95219000-95220600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr1:95219000-95220800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:95219000-95221800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:95219000-95222000	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr1:95219000-95222400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:95219000-95223200	Enhancers	Adipose Nuclei	Adipose
28	chr1:95219200-95220600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr1:95219200-95220800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr1:95219200-95220800	Enhancers	Spleen	Spleen
31	chr1:95219200-95221200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:95219200-95221400	Enhancers	Fetal Lung	lung
33	chr1:95219200-95221800	Enhancers	A549	lung
34	chr1:95219200-95222000	Enhancers	Dnd41	blood
35	chr1:95219400-95220400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:95219400-95222400	Enhancers	Primary hematopoietic stem cells	blood
37	chr1:95219400-95222800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:95219400-95223000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:95219400-95223000	Weak transcription	Psoas Muscle	Psoas
40	chr1:95219400-95223600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:95219600-95220200	Weak transcription	Small Intestine	intestine
42	chr1:95219600-95220400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:95219600-95220600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr1:95219600-95221200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:95219600-95221200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:95219600-95221200	Weak transcription	Brain Substantia Nigra	brain
47	chr1:95219600-95221200	Weak transcription	Fetal Muscle Leg	muscle
48	chr1:95219600-95221200	Weak transcription	Placenta	Placenta
49	chr1:95219600-95221400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr1:95219600-95221400	Enhancers	Primary neutrophils fromperipheralblood	blood

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