Variant report

Variant	rs4934433
Chromosome Location	chr10:90740953-90740954
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90736541..90738043-chr10:90739542..90741763,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10788624	0.88[ASN][1000 genomes]
rs10887876	0.86[CHB][hapmap];0.84[CHD][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs10887877	0.84[ASN][1000 genomes]
rs11202917	0.86[ASN][1000 genomes]
rs11202918	0.90[ASN][1000 genomes]
rs11202922	0.84[ASN][1000 genomes]
rs12359362	0.85[ASN][1000 genomes]
rs12775501	0.85[ASN][1000 genomes]
rs1324551	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs1468063	0.82[JPT][hapmap]
rs1800682	0.91[CHB][hapmap];0.83[CHD][hapmap];0.86[ASN][1000 genomes]
rs1926195	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs1926196	0.91[CHB][hapmap];0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs1926197	0.86[ASN][1000 genomes]
rs1926199	0.86[ASN][1000 genomes]
rs1926200	0.86[ASN][1000 genomes]
rs1926201	0.86[ASN][1000 genomes]
rs2031610	0.84[ASN][1000 genomes]
rs2234767	0.84[ASN][1000 genomes]
rs3740286	0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs3758485	0.87[ASN][1000 genomes]
rs3781204	0.86[ASN][1000 genomes]
rs3824729	0.84[ASN][1000 genomes]
rs3824730	0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs3903454	0.90[ASN][1000 genomes]
rs4934434	0.85[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs6586160	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6586161	0.83[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.96[LWK][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6586163	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs6586164	0.91[CHB][hapmap];0.84[ASN][1000 genomes]
rs6586165	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs6586166	0.82[ASN][1000 genomes]
rs6586167	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs7069061	0.83[ASN][1000 genomes]
rs7069841	0.89[ASN][1000 genomes]
rs7072828	0.83[ASN][1000 genomes]
rs7076197	0.86[ASN][1000 genomes]
rs7082101	0.89[ASN][1000 genomes]
rs7082720	0.89[ASN][1000 genomes]
rs7097467	0.90[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.86[ASN][1000 genomes]
rs7097572	0.91[CHB][hapmap];0.83[CHD][hapmap];0.84[ASN][1000 genomes]
rs7897395	0.83[ASN][1000 genomes]
rs7910660	0.88[ASN][1000 genomes]
rs7910825	0.81[CHB][hapmap];0.89[ASN][1000 genomes]
rs7914490	0.86[ASN][1000 genomes]
rs9325603	0.83[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs9658685	0.81[ASN][1000 genomes]
rs9658767	0.82[JPT][hapmap]
rs9658769	0.82[JPT][hapmap]
rs978522	0.86[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	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4934433	LIPN	cis	cerebellum	SCAN
rs4934433	ACTA2	cis	lymphoblastoid	seeQTL

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90735200-90749800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr10:90735400-90741200	Weak transcription	Right Ventricle	heart
3	chr10:90735600-90741600	Weak transcription	Fetal Kidney	kidney
4	chr10:90735600-90746400	Weak transcription	HepG2	liver
5	chr10:90735600-90748600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr10:90735600-90749200	Weak transcription	Fetal Muscle Leg	muscle
7	chr10:90735600-90749200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr10:90735800-90743800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr10:90735800-90746400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr10:90736400-90742600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:90736400-90743200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr10:90738200-90741600	Enhancers	Liver	Liver
13	chr10:90738200-90741600	Enhancers	Fetal Lung	lung
14	chr10:90738200-90741600	Enhancers	Ovary	ovary
15	chr10:90738200-90744200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:90738200-90744800	Enhancers	Rectal Smooth Muscle	rectum
17	chr10:90738200-90747800	Enhancers	Colon Smooth Muscle	Colon
18	chr10:90738400-90741000	Enhancers	Osteobl	bone
19	chr10:90738400-90741200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:90738400-90741800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:90738400-90742600	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr10:90738800-90741600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr10:90739000-90741000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr10:90739000-90741000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr10:90739000-90741600	Enhancers	HSMMtube	muscle
26	chr10:90739200-90741000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr10:90739200-90741600	Enhancers	HSMM	muscle
28	chr10:90739200-90743000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr10:90739200-90745200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:90739400-90741000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:90739400-90741600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr10:90739400-90742600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:90739400-90743800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr10:90739400-90745000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr10:90739400-90749400	Weak transcription	NHEK	skin
36	chr10:90739600-90741000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:90739600-90741000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr10:90739600-90741600	Enhancers	NHDF-Ad	bronchial
39	chr10:90739600-90742000	Weak transcription	Brain Hippocampus Middle	brain
40	chr10:90739600-90742000	Enhancers	Right Atrium	heart
41	chr10:90739600-90742200	Enhancers	Small Intestine	intestine
42	chr10:90739600-90742800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr10:90739600-90746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:90739600-90747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr10:90739600-90748600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:90739600-90749000	Weak transcription	Adipose Nuclei	Adipose
47	chr10:90739600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:90739800-90742600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:90739800-90742800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr10:90739800-90749200	Weak transcription	HMEC	breast

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